Varaico: Literature-Extracted Genetic Variants

Gene:HCAR1
Variant:p.L31V

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.L31V
c.91C>G
Surrounding Variants
1 paper
NM_032554.4
p.N33S
c.98A>G
1 paper
NM_032554.4
p.P20A
c.58C>G
1 paper
NM_032554.4
p.P19L
c.56C>T
1 paper
NM_032554.4
p.H43Q
c.129C>G
1 paper
NM_032554.4
p.H43Q
c.129C>A
1 paper
NM_032554.4
p.M44V
c.130A>G
1 paper
NM_032554.4
p.S50I
c.149G>T
1 paper
NM_032554.4
p.C6*
c.18C>A
1 paper
NM_032554.4
p.C6S
c.17G>C
2 papers
NM_032554.4
p.F55_N56insFs
c.165_166insA
1 paper
NM_032554.4
p.C6S
c.16T>A
1 paper
NM_032554.4
p.N56fs
c.166_167fs
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