Varaico: Literature-Extracted Genetic Variants

Gene:GPBAR1
Variant:p.L129H

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.L129H
c.386T>A
Surrounding Variants
1 paper
NM_170699.3
p.L128Q
c.383T>A
1 paper
NM_170699.3
p.L130H
c.389T>A
1 paper
NM_170699.3
p.L128R
c.383T>G
1 paper
NM_170699.3
p.T131A
c.391A>G
1 paper
NM_170699.3
p.A127_L128ins1
c.381_382insATC
1 paper
NM_170699.3
p.A127T
c.379G>A
1 paper
NM_170699.3
p.W132S
c.395G>C
1 paper
NM_170699.3
p.W132L
c.395G>T
1 paper
NM_170699.3
p.R125Q
c.374G>A
1 paper
NM_170699.3
p.I124N
c.371T>A
1 paper
NM_170699.3
p.S123R
c.369C>A
1 paper
NM_170699.3
p.S123R
c.369C>G
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