Varaico: Literature-Extracted Genetic Variants

Gene:GPBAR1
Variant:p.L257P

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.L257P
c.770T>C
Surrounding Variants
2 papers
NM_170699.3
p.P256S
c.766C>T
1 paper
NM_170699.3
p.P256fs
c.766_767fs
1 paper
NM_170699.3
p.R254H
c.761G>A
2 papers
NM_170699.3
p.Q253L
c.758A>T
1 paper
NM_170699.3
p.L262M
c.784C>A
1 paper
NM_170699.3
p.L262V
c.784C>G
1 paper
NM_170699.3
p.Y251*
c.753T>A
1 paper
NM_170699.3
p.Y251*
c.753T>G
1 paper
NM_170699.3
p.Y251F
c.752A>T
1 paper
NM_170699.3
p.S264Y
c.791C>A
1 paper
NM_170699.3
p.S264F
c.791C>T
1 paper
NM_170699.3
p.L249V
c.745C>G
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