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

14 papers

NM_201525.4

p.R38Q

c.113G>A

Surrounding Variants

16 papers

NM_201525.4

p.R38W

c.112C>T

1 paper

NM_201525.4

p.Q40K

c.118C>A

4 papers

NM_201525.4

p.S36N

c.107G>A

6 papers

NM_201525.4

p.C35*

c.105C>A

5 papers

NM_201525.4

p.R33P

c.98G>C

4 papers

NM_201525.4

p.R33G

c.97C>G

1 paper

NM_201525.4

p.R29M

c.86G>T

1 paper

NM_201525.4

p.P50H

c.149C>A

1 paper

NM_201525.4

p.D53_E59del0

c.159_176del18

1 paper

NM_201525.4

p.A23insFs

c.67_68insC

4 papers

NM_201525.4

p.E59insFs

c.175_176insC

1 paper

NM_201525.4

p.E59*

c.175G>T