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.P70L

c.209C>T

Surrounding Variants

1 paper

NM_201525.4

p.P72delFs

c.215delC

1 paper

NM_201525.4

p.P72S

c.214C>T

1 paper

NM_201525.4

p.P72fs

c.214_215fs

1 paper

NM_201525.4

p.A73E

c.218C>A

1 paper

NM_201525.4

p.A64V

c.191C>T

1 paper

NM_201525.4

p.A64S

c.190G>T

6 papers

NM_201525.4

p.R79*

c.235C>T

1 paper

NM_201525.4

p.S80S

c.240C>T

4 papers

NM_201525.4

p.E59insFs

c.175_176insC

1 paper

NM_201525.4

p.E59*

c.175G>T

2 papers

NM_201525.4

p.E59fs

c.175_176fs

1 paper

NM_201525.4

p.D83V

c.248A>T