Varaico: Literature-Extracted Genetic Variants

Gene:HCAR1
Variant:p.K116E

HCAR1

43 papers

RefSeq Summary

G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005].

Pfam Domains

7tm_1aa 32–278UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

hydroxycarboxylic acid receptor 1

HGNC Previous Symbols

GPR104; GPR81

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032554.4
p.K116E
c.346A>G
Surrounding Variants
1 paper
NM_032554.4
p.D112N
c.334G>A
2 papers
NM_032554.4
p.A110V
c.329C>T
1 paper
NM_032554.4
p.T107delFs
c.320_321delCG
1 paper
NM_032554.4
p.G101R
c.301G>C
1 paper
NM_032554.4
p.G101R
c.301G>A
1 paper
NM_032554.4
p.V136F
c.406G>T
1 paper
NM_032554.4
p.L142P
c.425T>C
1 paper
NM_032554.4
p.R89*
c.265C>T
1 paper
NM_032554.4
p.C88S
c.263G>C
1 paper
NM_032554.4
p.C88S
c.262T>A
1 paper
NM_032554.4
p.Y75_L76insFs
c.225_226dupCC
1 paper
NM_032554.4
p.C157S
c.469T>A
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