Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB

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
1–12 of 360 variants
60 papers
NM_001122659.3
p.W276C
c.828G>T
59 papers
NM_001122659.3
p.W276C
c.828G>C
19 papers
NM_001122659.3
p.G57S
c.169G>A
16 papers
NM_001122659.3
p.R319W
c.955C>T
15 papers
NM_001122659.3
p.S305N
c.914G>A
13 papers
NM_001122659.3
p.P383L
c.1148C>T
12 papers
NM_001122659.3
p.V185M
c.553G>A
11 papers
NM_001122659.3
p.A183G
c.548C>G
10 papers
NM_001122659.3
p.I187I
c.561C>T
10 papers
NM_001122659.3
p.L277L
c.831A>G
8 papers
NM_001122659.3
p.C109R
c.325T>C
8 papers
NM_001122659.3
p.R253*
c.757C>T
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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."