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.H89P

c.266A>C

Surrounding Variants

1 paper

NM_201525.4

p.H89Y

c.265C>T

15 papers

NM_201525.4

p.Y88C

c.263A>G

1 paper

NM_201525.4

p.Y88D

c.262T>G

15 papers

NM_201525.4

p.C91S

c.271T>A

5 papers

NM_201525.4

p.C91Y

c.272G>A

15 papers

NM_201525.4

p.C91S

c.272G>C

1 paper

NM_201525.4

p.D83V

c.248A>T

2 papers

NM_201525.4

p.R96*

c.286C>T

1 paper

NM_201525.4

p.S80S

c.240C>T

6 papers

NM_201525.4

p.R79*

c.235C>T

1 paper

NM_201525.4

p.L104_Y105delFs

c.312_313delCT

1 paper

NM_201525.4

p.A73E

c.218C>A