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

3 papers

NM_198569.3

p.Q1127R

c.3380A>G

Surrounding Variants

1 paper

NM_198569.3

p.L1129V

c.3385C>G

1 paper

NM_198569.3

p.C1130*

c.3390C>A

1 paper

NM_198569.3

p.R1135W

c.3403C>T

1 paper

NM_198569.3

p.R1135Q

c.3404G>A

1 paper

NM_198569.3

p.D1141Splc

c.3422-3C>T

2 papers

NM_198569.3

p.W1142*

c.3425G>A

2 papers

NM_198569.3

p.W1142*

c.3426G>A

1 paper

NM_198569.3

p.S1177P

c.3529T>C

1 paper

NM_198569.3

p.T1191K

c.3572C>A

1 paper

NM_198569.3

p.D1192Splc

c.3574+1G>A

2 papers

NM_198569.3

p.S1201P

c.3601T>C

1 paper

NM_198569.3

p.G1208A

c.3623G>C