Genetics Genetics Research
CHROMOSOME 1 PRKACB 1p31.1 GENE VIEW PRKACB · 1p31.1 1p32 1p30 rs7524898 — ~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 rs7524898 C / T · PRKACB · 1p31.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs7524898

Gene: PRKACB — Protein Kinase CAMP-Activated Catalytic Subunit Beta Chr 1:84167162 1p31.1 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total C 0.966586T 0.033414CC 0.934544CT/TC 0.064083TT 0.001372pop=255,012 ↬
African C 0.99266T 0.00734CC 0.985607CT/TC 0.014099TT 0.000294pop=13,618
African American C 0.99239T 0.00761CC 0.985079CT/TC 0.014616TT 0.000305pop=13,136
Asian C 0.9997T 0.0003CC 0.999332CT/TC 0.000668TT 0pop=5,992
European C 0.963332T 0.036668CC 0.92818CT/TC 0.070303TT 0.001517pop=221,526
Latin American 1 C 0.983T 0.017CC 0.9653CT/TC 0.0347TT 0pop=634
Latin American 2 C 0.9655T 0.0345CC 0.931945CT/TC 0.067039TT 0.001016pop=3,938
Other C 0.9741T 0.0259CC 0.948693CT/TC 0.050814TT 0.000493pop=4,054
Other Asian C 0.998T 0.002CC 0.99596CT/TC 0.00404TT 0pop=990
South Asian C 0.9916T 0.0084CC 0.984CT/TC 0.015238TT 0.000762pop=5,250

Studies1

Unread Studies1 ▼
1

Genomics and transcriptomics landscapes associated to changes in insulin sensitivity in r changes in insulin sensitivity in response t esponse to endur o endurance ex ance exercise training

Study ↗ PDF ↗
PID
Despite good adherence to supervised endurance exercise training (EET), some individuals experience no or little improvement in peripheral insulin sensitivity. The genetic and molecular mechanisms underlying this phenomenon are currently not understood. By investigating genome-wide variants associated with baseline and exercise-induced changes (∆) in insulin sensitivity index (Si) in healthy volunteers, we have identified novel candidate genes whose mouse knockouts phenotypes were consistent with a causative effect on Si. An integrative analysis of functional genomic and transcriptomic profiles suggests genetic variants have an aggregate effect on baseline Si and ∆Si, focused around cholinergic signalling, including downstream calcium and chemokine signalling. The identification of calcium regulated MEF2A transcription factor as the most statistically significant candidate driving the transcriptional signature associated to ∆Si further strengthens the relevance of calcium signalling in EET mediated Si response.

2021 · LY Takeshita, PK Davidsen, JM Herbert, P Antczak…

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.