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.N1036S

c.3107A>G

Surrounding Variants

1 paper

NM_198569.3

p.I1037M

c.3111T>G

1 paper

NM_198569.3

p.V1031A

c.3092T>C

1 paper

NM_198569.3

p.P1018A

c.3052C>G

3 papers

NM_198569.3

p.R1057Q

c.3170G>A

NM_001032394.3

p.R1029Q

c.3086G>A

1 paper

NM_198569.3

p.V1063L

c.3187G>C

1 paper

NM_198569.3

p.V1063L

c.3187G>T

1 paper

NM_198569.3

p.R1068C

c.3202C>T

1 paper

NM_198569.3

p.W1081G

c.3241T>G

2 papers

NM_198569.3

p.W1088*

c.3263G>A

2 papers

NM_198569.3

p.W1088*

c.3264G>A

4 papers

NM_198569.3

p.W1088C

c.3264G>C

4 papers

NM_198569.3

p.W1088C

c.3264G>T