Varaico: Literature-Extracted Genetic Variants

Gene:ADGRD1
Variant:p.I230T

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.I230T
c.689T>C
Surrounding Variants
1 paper
NM_198827.5
p.I229_I230insFs
c.687_688dupCA
1 paper
NM_198827.5
p.R233W
c.697C>T
1 paper
NM_198827.5
p.R233Q
c.698G>A
1 paper
NM_198827.5
p.E227*
c.679G>T
1 paper
NM_198827.5
p.D226N
c.676G>A
1 paper
NM_198827.5
p.F225S
c.674T>C
1 paper
NM_198827.5
p.D238delFs
c.712delG
1 paper
NM_198827.5
p.A241T
c.721G>A
1 paper
NM_198827.5
p.M242T
c.725T>C
1 paper
NM_198827.5
p.F244L
c.732C>A
1 paper
NM_198827.5
p.T245I
c.734C>T
1 paper
NM_198827.5
p.G211A
c.632G>C
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