Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.S86Y

EDNRB

450 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent va...

Pfam Domains

7tm_1aa 118–387UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

endothelin receptor type B

HGNC Previous Symbols

HSCR2; HSCR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122659.3
p.S86Y
c.257C>A
Surrounding Variants
1 paper
NM_001122659.3
p.S86C
c.257C>G
1 paper
NM_001122659.3
p.P89S
c.265C>T
1 paper
NM_001122659.3
p.R83R
c.249C>T
2 papers
NM_001122659.3
p.R83H
c.248G>A
2 papers
NM_001122659.3
p.C90R
c.268T>C
1 paper
NM_001122659.3
p.G92*
c.274G>T
1 paper
NM_001122659.3
p.G92R
c.274G>A
1 paper
NM_001122659.3
p.G79R
c.235G>A
1 paper
NM_001122659.3
p.A78T
c.232G>A
6 papers
NM_001122659.3
p.T77T
c.231G>A
1 paper
NM_001122659.3
p.P93_I94delFs
c.278_281del4
2 papers
NM_001122659.3
p.T77M
c.230C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."