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

1–12 of 126 variants

10 papers

NM_198569.3

p.S123G

c.367A>G

10 papers

NM_198569.3

p.V769E

c.2306T>A

7 papers

NM_198569.3

p.R7*

c.19C>T

6 papers

NM_198569.3

p.K230Q

c.688A>C

4 papers

NM_198569.3

p.W69*

c.206G>A

4 papers

NM_198569.3

p.T70M

c.209C>T

4 papers

NM_198569.3

p.W1088C

c.3264G>C

4 papers

NM_198569.3

p.W1088C

c.3264G>T

3 papers

NM_198569.3

p.G715insFs

c.2144dupG

3 papers

NM_198569.3

p.Q716fs

c.2146_2147fs

3 papers

NM_198569.3

p.Q1127R

c.3380A>G

2 papers

NM_198569.3

p.C41F

c.122G>T