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_005682.7

p.L355Splc

c.1063+3G>C

Surrounding Variants

1 paper

NM_201525.4

p.L355Splc

c.1063+1G>A

13 papers

NM_201525.4

p.W349S

c.1046G>C

1 paper

NM_201525.4

p.C346Y

c.1037G>A

15 papers

NM_201525.4

p.C346S

c.1037G>C

16 papers

NM_201525.4

p.C346S

c.1036T>A

1 paper

NM_201525.4

p.P339_K340Splc

c.1018-109A>T

1 paper

NM_201525.4

p.P358T

c.1072C>A

1 paper

NM_201525.4

p.Q338fs

c.1012_1013fs

1 paper

NM_201525.4

p.L337insFs

c.1010dupT

1 paper

NM_201525.4

p.Q334*

c.1000C>T

2 papers

NM_201525.4

p.T332T

c.996T>C

1 paper

NM_201525.4

p.H381Y

c.1141C>T