Varaico: Literature-Extracted Genetic Variants

Gene:ADGRD1
Variant:p.P308S

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.P308S
c.922C>T
Surrounding Variants
1 paper
NM_198827.5
p.L312L
c.936C>T
1 paper
NM_198827.5
p.L318F
c.954G>C
1 paper
NM_198827.5
p.L318F
c.954G>T
1 paper
NM_198827.5
p.G294R
c.880G>A
1 paper
NM_198827.5
p.G294R
c.880G>C
1 paper
NM_198827.5
p.P293A
c.877C>G
1 paper
NM_198827.5
p.K322_T323Splc
c.966+1G>A
1 paper
NM_198827.5
p.R287fs
c.859_860fs
1 paper
NM_198827.5
p.V270A
c.809T>C
1 paper
NM_198827.5
p.V270M
c.808G>A
1 paper
NM_198827.5
p.P269P
c.807C>A
1 paper
NM_198827.5
p.S268N
c.803G>A
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