CHROMOSOME 13 ABCC4 13q32.1 GENE VIEW ABCC4 · 13q32.1 13q31 13q33 rs11568668 — ~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 rs11568668 Glycine 487 → Valine C / A · ABCC4 · 13q32.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs11568668

Glycine 487 → Valine Gene: ABCC4 — ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group) Chr 13:95186786 13q32.1 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies6

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Total C 0.999891T 0.000109CC 0.999787CT/TC 0.000208TT 0.000005pop=402,956
Asian C 0.99608T 0.00392CC 0.992349CT/TC 0.007464TT 0.000187pop=10,718
East Asian C 0.9957T 0.0043CC 0.991451CT/TC 0.008549TT 0pop=8,656
European C 0.999997T 0.000003CC 0.999994CT/TC 0.000006TT 0pop=331,684
Other C 0.9999T 0.0001CC 0.999762CT/TC 0.000238TT 0pop=8,416
Other Asian C 0.9976T 0.0024CC 0.99612CT/TC 0.00291TT 0.00097pop=2,062

Studies11

Unread Studies11
1
The use of tyrosine kinase inhibitors (TKIs) has become the mainstay of treatment in patients suffering from chronic myeloid leukemia (CML), an adult leukemia caused by a reciprocal …
2
… -endoperoxide synthase 1 (PTGS1) (rs3842787 and rs10306114); PTGFR (rs3753380 and rs3766355); multidrug resistance protein 4 (MRP4) (rs11568658 and rs11568668). The …
3
Plasma efavirenz (EFV) concentrations within therapeutic levels are essential to successfully treat patients suffering from human immunodeficiency virus (HIV) type 1. In …
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Numerous studies have reported the emergence of antimicrobial resistance during the treatment of common infections. Multidrug resistance (MDR) leads to failure of antimicrobial …
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Broad-spectrum drug resistance is a major obstacle in cancer treatment, which is often caused by overexpression of ABC transporters the levels of which vary between individuals due …
6
Broad-spectrum resistance in cancer cells is often caused by the overexpression of ABC transporters; which varies across individuals because of genetic single-nucleotide …
7
Broad inter-individual variation exists in susceptibility to arsenic-induced tumours, likely involving differences in the ability of individuals to eliminate this metalloid. We recently identified …
8
… This project focused on the G487E MRP4 variant (rs11568668) found in the SOPHIE project at a 0.008 allele frequency (n = 120) amongst Asian American individuals [38]. The G487E …
9
The purpose of this study is to evaluate the association between variants in prostaglandin-endoperoxide synthase 1 (PTGS1), prostaglandin F (2α) receptor (PTGFR), and …
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目的探讨人核苷转运蛋白1 (hCNT1/SLC28A1) 及多药耐药蛋白4 (MRP4/ABCC4) 基因多态性 与治疗乙型肝炎核苷类似物药物恩替卡韦(ETV) 及替比夫定(LdT) 治疗慢性乙型肝炎的病毒学…
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ABCC4 encodes multidrug resistance protein 4 (MRP4), a member of the ATP-binding cassette family of membrane transporters involved in the efflux of endogenous and xenobiotic …
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.