Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG2
Variant:p.E40*

ADGRG2

73 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a mot...

Pfam Domains

ADGRG2_Naa 116–240UCSCADGRG2, N-terminal domain
GAIN_ADGRG2aa 376–435UCSCADGRG2-like, GAIN domain
GPSaa 568–612UCSCGPCR proteolysis site, GPS, motif
7tm_2aa 625–875UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor G2

HGNC Previous Symbol

GPR64

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001079858.3
p.E40*
c.118G>T
Surrounding Variants
1 paper
NM_001079858.3
p.S37C
c.110C>G
1 paper
NM_001079858.3
p.V35I
c.103G>A
1 paper
NM_001079858.3
p.H31_L34del4
c.91_101del12
1 paper
NM_001079858.3
p.L25fs
c.73_74fs
1 paper
NM_001079858.3
p.L25delFs
c.73delG
1 paper
NM_001079858.3
p.L19P
c.56T>C
1 paper
NM_001079858.3
p.V17delFs
c.50delA
1 paper
NM_001079858.3
p.E16V
c.47A>T
1 paper
NM_001079858.3
p.V11_G12delFs
c.31_34del4
1 paper
NM_001079858.3
p.M1insFs
c.2_3ins4
1 paper
NM_001079858.3
p.M1R
c.2T>G
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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."