Varaico: Literature-Extracted Genetic Variants

ADGRG6

126 papers

RefSeq Summary

This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants enc...

Pfam Domains

CUBaa 41–146UCSCCUB domain

Pentaxinaa 157–348UCSCPentaxin family

SEA_Gpr126aa 406–520UCSCSEA domain of adhesion GPCR Gpr126

GAIN_ADGRG2aa 605–665UCSCADGRG2-like, GAIN domain

GPSaa 801–846UCSCGPCR proteolysis site, GPS, motif

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor G6

HGNC Previous Symbol

GPR126

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198569.3

p.C41F

c.122G>T

Surrounding Variants

1 paper

NM_198569.3

p.N40D

c.118A>G

1 paper

NM_198569.3

p.D60N

c.178G>A

4 papers

NM_198569.3

p.W69*

c.206G>A

4 papers

NM_198569.3

p.T70M

c.209C>T

2 papers

NM_198569.3

p.C94Y

c.281G>A

1 paper

NM_198569.3

p.D102G

c.305A>G

1 paper

NM_198569.3

p.D102V

c.305A>T

1 paper

NM_198569.3

p.A115_K116insFs

c.345_346insA

1 paper

NM_198569.3

p.L118L

c.354A>G

10 papers

NM_198569.3

p.S123G

c.367A>G

1 paper

NM_198569.3

p.A124A

c.372G>C

2 papers

NM_198569.3

p.D134A

c.401A>C