Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG2
Variant:p.I600V

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
1 paper
NM_001079858.3
p.I600V
c.1798A>G
Surrounding Variants
1 paper
NM_001079858.3
p.T599I
c.1796C>T
2 papers
NM_001079858.3
p.T599A
c.1795A>G
1 paper
NM_001079858.3
p.T607I
c.1820C>T
1 paper
NM_001079858.3
p.G610D
c.1829G>A
1 paper
NM_001079858.3
p.N578fs
c.1732_1733fs
6 papers
NM_001079858.3
p.C570Y
c.1709G>A
1 paper
NM_001079858.3
p.V545I
c.1633G>A
1 paper
NM_001079858.3
p.Y650F
c.1949A>T
7 papers
NM_001079858.3
p.E516*
c.1546G>T
5 papers
NM_001079858.3
p.F515insFs
c.1545dupT
1 paper
NM_001079858.3
p.E516fs
c.1546_1547fs
1 paper
NM_001079858.3
p.A507_S508del1
c.1521_1523delGAA
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