Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG6
Variant:p.C30R

ADGRG6

126 papers

RefSeq Summary

This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants enc...

Pfam Domains

CUBaa 41–146UCSCCUB domain
Pentaxinaa 157–348UCSCPentaxin family
SEA_Gpr126aa 406–520UCSCSEA domain of adhesion GPCR Gpr126
GAIN_ADGRG2aa 605–665UCSCADGRG2-like, GAIN domain
GPSaa 801–846UCSCGPCR proteolysis site, GPS, motif
GPSaa 801–846UCSCGPCR proteolysis site, GPS, motif

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor G6

HGNC Previous Symbol

GPR126

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198569.3
p.C30R
c.88T>C
Surrounding Variants
7 papers
NM_198569.3
p.R7*
c.19C>T
1 paper
NM_198569.3
p.M1I
c.3G>T
1 paper
NM_198569.3
p.M1Splc
c.2+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."