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.K240T

c.719A>C

Surrounding Variants

1 paper

NM_198569.3

p.D244V

c.731A>T

1 paper

NM_198569.3

p.S249C

c.745A>T

6 papers

NM_198569.3

p.K230Q

c.688A>C

1 paper

NM_198569.3

p.Y222*

c.666C>A

1 paper

NM_198569.3

p.Y222*

c.666C>G

1 paper

NM_198569.3

p.G221G

c.663C>A

1 paper

NM_198569.3

p.S214G

c.640A>G

1 paper

NM_198569.3

p.R270T

c.809G>C

1 paper

NM_198569.3

p.E273Q

c.817G>C

1 paper

NM_198569.3

p.P286L

c.857C>T

1 paper

NM_198569.3

p.K290K

c.870A>G

1 paper

NM_198569.3

p.L185P

c.554T>C