Varaico: Literature-Extracted Genetic Variants

ADGRG1

152 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tum...

Pfam Domains

PLLaa 29–162UCSCPTX/LNS-Like (PLL) domain

GAIN_Aaa 173–220UCSCGPCR-Autoproteolysis-INducing (GAIN) subdomain A

GPSaa 344–388UCSCGPCR proteolysis site, GPS, motif

7tm_2aa 400–654UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor G1

HGNC Previous Symbol

GPR56

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201525.4

p.D396Y

c.1186G>T

Surrounding Variants

5 papers

NM_201525.4

p.L406delFs

c.1216delC

1 paper

NM_201525.4

p.L406fs

c.1216_1217fs

1 paper

NM_201525.4

p.Y408C

c.1223A>G

1 paper

NM_201525.4

p.M389_V390Splc

c.1168-20C>A

1 paper

NM_201525.4

p.V409A

c.1226T>C

7 papers

NM_201525.4

p.C418W

c.1254C>G

1 paper

NM_201525.4

p.A424T

c.1270G>A

1 paper

NM_201525.4

p.R429Splc

c.1286+6G>A

6 papers

NM_201525.4

p.M389_V390Splc

c.1167+3G>C

1 paper

NM_201525.4

p.A386T

c.1156G>A

5 papers

NM_201525.4

p.T383A

c.1147A>G

1 paper

NM_201525.4

p.H381Y

c.1141C>T