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

7 papers

NM_201525.4

p.L476L

c.1426C>T

Surrounding Variants

2 papers

NM_005682.7

p.S485P

c.1453T>C

1 paper

NM_201525.4

p.L480R

c.1439T>G

3 papers

NM_001145771.3

p.L487P

c.1460T>C

5 papers

NM_005682.7

p.R476*

c.1426C>T

NM_001145771.3

p.R470*

c.1408C>T

1 paper

NM_201525.4

p.C483W

c.1449C>G

6 papers

NM_201525.4

p.S485P

c.1453T>C

3 papers

NM_201525.4

p.M487T

c.1460T>C

1 paper

NM_201525.4

p.G464C

c.1390G>T

2 papers

NM_201525.4

p.T463P

c.1387A>C

1 paper

NM_005682.7

p.L495P

c.1484T>C

4 papers

NM_005682.7

p.E496K

c.1486G>A

1 paper

NM_201525.4

p.E490G

c.1469A>G