Varaico: Literature-Extracted Genetic Variants

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

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.S523L

c.1568C>T

Surrounding Variants

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

2 papers

NM_198827.5

p.V538I

c.1612G>A

1 paper

NM_198827.5

p.V538A

c.1613T>C

2 papers

NM_198827.5

p.R540C

c.1618C>T

1 paper

NM_198827.5

p.R540H

c.1619G>A

1 paper

NM_198827.5

p.H543D

c.1627C>G

4 papers

NM_198827.5

p.H543R

c.1628A>G

2 papers

NM_198827.5

p.T545A

c.1633A>G

1 paper

NM_198827.5

p.S516Splc

c.1547+1G>A