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

9 papers

NM_201525.4

p.R271*

c.811C>T

Surrounding Variants

1 paper

NM_201525.4

p.R271delFs

c.812delG

1 paper

NM_201525.4

p.T272I

c.815C>T

2 papers

NM_201525.4

p.L269fs

c.805_806fs

1 paper

NM_201525.4

p.L268ins1

c.803_804insCCA

1 paper

NM_201525.4

p.L268ins3

c.803_804ins9

1 paper

NM_201525.4

p.L268insFs

c.803_804ins13

2 papers

NM_201525.4

p.L268insFs

c.803_804ins13

1 paper

NM_201525.4

p.T277T

c.831G>A

1 paper

NM_201525.4

p.G279_R280delFs

c.837_838delCC

4 papers

NM_201525.4

p.S281R

c.841A>C

1 paper

NM_201525.4

p.E261*

c.781G>T

1 paper

NM_201525.4

p.S281delFs

c.843delC