Varaico: Literature-Extracted Genetic Variants

Gene:ADGRD1
Variant:p.Y18H

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.Y18H
c.52T>C
Surrounding Variants
1 paper
NM_198827.5
p.Y18C
c.53A>G
1 paper
NM_198827.5
p.Q22_V23Splc
c.66+1G>A
3 papers
NM_198827.5
p.M1T
c.2T>C
1 paper
NM_198827.5
p.V26A
c.77T>C
1 paper
NM_198827.5
p.R29T
c.86G>C
1 paper
NM_198827.5
p.D32N
c.94G>A
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