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.G628V

c.1883G>T

Surrounding Variants

1 paper

NM_198569.3

p.R615I

c.1844G>T

1 paper

NM_198569.3

p.V610M

c.1828G>A

1 paper

NM_198569.3

p.D597V

c.1790A>T

1 paper

NM_198569.3

p.G573delFs

c.1719delA

1 paper

NM_198569.3

p.G573fs

c.1717_1718fs

1 paper

NM_198569.3

p.N566S

c.1697A>G

1 paper

NM_001032394.3

p.A625T

c.1873G>A

1 paper

NM_001032394.3

p.K627R

c.1880A>G

1 paper

NM_198569.3

p.A680P

c.2038G>C

1 paper

NM_001032394.3

p.Q512H

c.1536A>C

1 paper

NM_001032394.3

p.Q512H

c.1536A>T

1 paper

NM_198569.3

p.Q540P

c.1619A>C