CHROMOSOME 6 SLC22A2 6q25.3 GENE VIEW SLC22A2 · 6q25.3 6q24 6q26 rs8177516 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs8177516 Arginine 400 → Cysteine G / A · SLC22A2 · 6q25.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs8177516

Arginine 400 → Cysteine Gene: SLC22A2 — Solute Carrier Family 22 Member 2 Chr 6:160243653 6q25.3 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies9

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Total G 0.998036A 0.001956GG 0.996128GA/AG 0.003832AA 0.00004pop=645,618
African G 0.9848A 0.0152GG 0.969897GA/AG 0.029799AA 0.000303pop=65,908
African American G 0.98488A 0.01512GG 0.970072GA/AG 0.029614AA 0.000314pop=63,686
African Others G 0.9824A 0.0176GG 0.964896GA/AG 0.035104AA 0pop=2,222
European G 0.999771A 0.000225GG 0.999558GA/AG 0.000434AA 0.000008pop=501,780
Latin American 1 G 0.993A 0.007GG 0.985921GA/AG 0.014079AA 0pop=9,518
Latin American 2 G 0.99926A 0.00074GG 0.998521GA/AG 0.001479AA 0pop=14,878
Other G 0.9977A 0.00221GG 0.995647GA/AG 0.004289AA 0.000064pop=31,252
South Asian G 0.9998A 0.0002GG 0.999687GA/AG 0.000313AA 0pop=6,388

Studies30

Unread Studies30
1
Studies have shown that solute carrier transporters play an important role in the transport and distribution of metformin, and that genetic variation(s) in solute carrier genes …
2
Metformin is a widely used first-line treatment for type 2 diabetes mellitus (T2DM) in patients aged 10 years and older. Due to its hydrophilic nature, metformin requires cation …
3
Objetivo el objetivo de este artículo es realizar una revisión narrativa de cómo se está aplicando la farmacogenética y la farmacogenómica en la clínica, especialmente en España. …
4
The aim of this article was to perform a narrative review of how pharmacogenetics and pharmacogenomics is being applied in the clinics, especially in Spain. Method …
5
Diabetes has become a pandemic as the number of diabetic people continues to rise globally. Being a heterogeneous disease, it has different manifestations and associated …
6
Organic cation transporters (OCTs) of the solute carrier family (SLC) 22 are the subject of intensive research because they mediate the transport of many clinically-relevant drugs such …
7
Ovaj rad je izrađen na Institutu za antropologiju pod voditeljstvom dr. sc. Marijane Peričić Salihović u sklopu projekta HRZZ IP-2014-09-4454 „Utjecaj podrijetla i izolacije na ADME gene…
8
Diabetes mellitus je souhrnný název pro chronická metabolická onemocnění vyznačující se dlouhodobou hyperglykémií. Výskyt diabetu mellitu 2. typu celosvětově stoupá, v posledních …
9
Polymorphisms in drug transporters, like the adenosine triposphate‒binding cassette (ABC) and solute carrier (SLC) superfamilies, may contribute to the observed diversity in drug …
10
… variants, rs8177516 (R400S), rs8177517 (K432Q), rs8177507 (M165I) and rs316019 (A270S), and suggested that tetrabutylammonium is the more potent inhibitor for the rs8177516 (…
11
Medicina personalizată, bazată pe particularitățile individuale ale pacienților (biomarkeri) și polimorfi smul genetic, va permite optimizarea farmacoterapiei maladiilor, inclusiv a …
12
La reprogramación del metabolismo es un proceso característico del cáncer, habiéndose descrito diferencias a nivel metabólico entre subtipos de cáncer de mama. El objetivo de este …
13
La Farmacogenética (PGx) representa en la actualidad una de las herramientas más importantes del paradigma de la medicina personalizada permitiendo evitar Reacciones Adversas …
14
The treatment of Type 2 Diabetes Mellitus (T2DM) consists primarily of oral antidiabetic drugs (OADs) that stimulate insulin secretion, such as sulfonylureas (SUs) and reduce hepatic …
15
Metabolic reprogramming is a hallmark of cancer. It has been described that breast cancer subtypes present metabolism differences and this fact enables the possibility of using …
16
In 2014, we established a pharmacogenetics unit with the intention of facilitating the integration of pharmacogenetic testing into clinical practice. This unit was centered around two main …
17
A gabapentina (GAB) é um anticonvulsivante indicado para o tratamento de epilepsia e dor crônica. Possui cinética não linear relacionada a saturação do processo de absorção, não é …
18
SLC22A2 facilitates the transport of endogenous and exogenous cationic compounds. Many pharmacologically significant compounds are transported by SLC22A2, including the …
19
Organic cation transporters (OCTs) play a pivotal role in the absorption, tissue distribution, and excretion of a diverse array of substances, and currently the nature of the biochemical …
20
The SLC22A2 gene is a polyspecific transporter that mediates the electrogenic transport of small organic cations with different molecular structures. Furthermore, single-…
21
The pharmacogenomics (PGx) of membrane transporters of particular importance to drug disposition are described in this chapter, primarily focusing on those drug transporters of …
22
Solute carrier transporters belonging to the major facilitator family of membrane transporter are increasingly being recognized as a possible mechanism to explain inter-individual …
23
Metformin is the first-line therapy for the treatment of Type 2 Diabetes Mellitus (T2DM) and is the most widely prescribed anti-diabetic drug in the world. A common and potentially …
24
Human organic cation transporter 2 (hOCT2) is thought to play a critical role in the uptake, pharmacological effects and/or adverse effects of many cationic clinical therapeutics and …
25
В обзоре отражены основные направлении фармакогенетических исследований применения метформина у больных сахарным диабетом 2 типа. Приведены результаты …
26
The organic ion transporter family, SLC22, includes 22 transporters in the human genome. Within the family, there are several subfamilies, which consist of members that cluster …
27
A growing list of membrane-spanning proteins involved in the transport of a large variety of drugs has been recognized and characterized to include peptide and organic anion/cation …
28
The objective of the study was to evaluate allelic variation in 26 members of the solute carrier (SLC) gene family for an association with preeclampsia. STUDY DESIGN: …
29
Genetic variants of the organic cation transporter 2 (protein, OCT2; gene, SLC22A2) were evaluated for their contribution to the variations in the pharmacokinetics of metformin, …
30
… variants, rs8177516 (R400S), rs8177517 (K432Q), rs8177507 (M165I) and rs316019 (A270S), and suggested that tetrabutylammonium is the more potent inhibitor for the rs8177516 (…
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

No unused studies.