Varaico: Literature-Extracted Genetic Variants

Gene:ADGRD1
Variant:p.V508M

ADGRD1

81 papers

RefSeq Summary

The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and tra...

Pfam Domains

Laminin_G_3aa 87–241UCSCConcanavalin A-like lectin/glucanases superfamily
GPSaa 508–550UCSCGPCR proteolysis site, GPS, motif
GPSaa 508–550UCSCGPCR proteolysis site, GPS, motif
7tm_2aa 563–802UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor D1

HGNC Previous Symbol

GPR133

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198827.5
p.V508M
c.1522G>A
Surrounding Variants
1 paper
NM_198827.5
p.N504Y
c.1510A>T
1 paper
NM_198827.5
p.N501D
c.1501A>G
1 paper
NM_198827.5
p.T500N
c.1499C>A
1 paper
NM_198827.5
p.S516Splc
c.1547+1G>A
1 paper
NM_198827.5
p.A499S
c.1495G>T
1 paper
NM_198827.5
p.E498G
c.1493A>G
1 paper
NM_198827.5
p.R493C
c.1477C>T
1 paper
NM_198827.5
p.S523L
c.1568C>T
1 paper
NM_198827.5
p.N524K
c.1572C>A
1 paper
NM_198827.5
p.N524K
c.1572C>G
1 paper
NM_198827.5
p.G526R
c.1576G>C
1 paper
NM_198827.5
p.T530M
c.1589C>T
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