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

4 papers

NM_201525.4

p.L449del1

c.1345_1346delCTG

Surrounding Variants

1 paper

NM_001145773.3

p.V452fs

c.1354_1355fs

1 paper

NM_001145771.3

p.L451del1

c.1351_1353delCTG

1 paper

NM_201525.4

p.S457R

c.1369A>C

1 paper

NM_201525.4

p.H440Y

c.1318C>T

1 paper

NM_201525.4

p.S457R

c.1371C>A

1 paper

NM_201525.4

p.S457R

c.1371C>G

1 paper

NM_201525.4

p.S457S

c.1371C>T

1 paper

NM_201525.4

p.E458delFs

c.1372delG

2 papers

NM_201525.4

p.T463P

c.1387A>C

1 paper

NM_201525.4

p.R433Q

c.1298G>A

1 paper

NM_201525.4

p.G464C

c.1390G>T

1 paper

NM_201525.4

p.R430K

c.1289G>A