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.V926M

c.2776G>A

Surrounding Variants

1 paper

NM_198569.3

p.V926G

c.2777T>G

1 paper

NM_198569.3

p.R893Q

c.2678G>A

1 paper

NM_198569.3

p.R893*

c.2677C>T

1 paper

NM_198569.3

p.R968C

c.2902C>T

1 paper

NM_198569.3

p.I870T

c.2609T>C

1 paper

NM_198569.3

p.K862E

c.2584A>G

1 paper

NM_198569.3

p.R859S

c.2577A>C

1 paper

NM_198569.3

p.R859S

c.2577A>T

1 paper

NM_198569.3

p.M847_D848Splc

c.2542-75G>C

1 paper

NM_198569.3

p.P1018A

c.3052C>G

1 paper

NM_198569.3

p.V1031A

c.3092T>C

1 paper

NM_198569.3

p.N1036S

c.3107A>G