Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.A183G

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
11 papers
NM_001122659.3
p.A183G
c.548C>G
Surrounding Variants
1 paper
NM_001122659.3
p.A183V
c.548C>T
1 paper
NM_001122659.3
p.A183P
c.547G>C
1 paper
NM_001122659.3
p.A183T
c.547G>A
5 papers
NM_001201397.2
p.S274S
c.822T>C
NM_001122659.3
p.S184S
c.552T>C
1 paper
NM_001122659.3
p.Q181H
c.543G>T
1 paper
NM_001122659.3
p.V185insFs
c.553_554insTG
1 paper
NM_001122659.3
p.Q181H
c.543G>C
13 papers
NM_001122659.3
p.V185M
c.553G>A
NM_001201397.2
p.V275M
c.823G>A
1 paper
NM_001122659.3
p.Q181*
c.541C>T
3 papers
NM_001122659.3
p.G186R
c.556G>C
3 papers
NM_001122659.3
p.G186R
c.556G>A
1 paper
NM_001122659.3
p.G186A
c.557G>C
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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."