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.P134L

c.401C>T

Surrounding Variants

1 paper

NM_201525.4

p.L135fs

c.403_404fs

1 paper

NM_201525.4

p.P134insFs

c.401dupC

1 paper

NM_201525.4

p.L136F

c.408A>C

2 papers

NM_201525.4

p.Q131H

c.393G>C

2 papers

NM_201525.4

p.Q131H

c.393G>T

4 papers

NM_201525.4

p.W143*

c.428G>A

6 papers

NM_201525.4

p.W143*

c.429G>A

6 papers

NM_201525.4

p.Q123*

c.367C>T

1 paper

NM_201525.4

p.C121S

c.362G>C

1 paper

NM_201525.4

p.C121S

c.361T>A

1 paper

NM_201525.4

p.S118N

c.353G>A

1 paper

NM_201525.4

p.S118T

c.353G>C