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

1 paper

NM_198569.3

p.H800Y

c.2398C>T

Surrounding Variants

1 paper

NM_198569.3

p.H839N

c.2515C>A

1 paper

NM_198569.3

p.H839Y

c.2515C>T

10 papers

NM_198569.3

p.V769E

c.2306T>A

NM_001032395.3

p.V741E

c.2222T>A

1 paper

NM_001032395.3

p.R715insFs

c.2144dupG

1 paper

NM_198569.3

p.V741D

c.2222T>A

2 papers

NM_198569.3

p.L740*

c.2219T>A

2 papers

NM_198569.3

p.L740*

c.2219T>G

3 papers

NM_198569.3

p.Q716fs

c.2146_2147fs

3 papers

NM_198569.3

p.G715insFs

c.2144dupG

1 paper

NM_198569.3

p.D711V

c.2132A>T

1 paper

NM_198569.3

p.M847_D848Splc

c.2542-75G>C

1 paper

NM_198569.3

p.R859S

c.2577A>C