Varaico: Literature-Extracted Genetic Variants

Gene:GPBAR1
Variant:p.D42A

GPBAR1

647 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acid...

Pfam Domains

7tm_1aa 31–273UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

G protein-coupled bile acid receptor 1

HGNC Alias Symbols

BG37; GPCR; TGR5; M-BAR; GPCR19; GPR131; MGC40597

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_170699.3
p.D42A
c.125A>C
Surrounding Variants
1 paper
NM_170699.3
p.D42insFs
c.124_125ins4
2 papers
NM_170699.3
p.W41C
c.123G>C
1 paper
NM_170699.3
p.W41C
c.123G>T
1 paper
NM_170699.3
p.D42delFs
c.124delG
3 papers
NM_170699.3
p.R44S
c.130C>A
3 papers
NM_170699.3
p.R44H
c.131G>A
1 paper
NM_170699.3
p.A40S
c.118G>T
1 paper
NM_170699.3
p.I39I
c.117C>A
1 paper
NM_170699.3
p.G38G
c.114C>A
1 paper
NM_170699.3
p.R46C
c.136C>T
1 paper
NM_170699.3
p.R46P
c.137G>C
1 paper
NM_170699.3
p.R46R
c.138C>A
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