Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA

EDNRA

160 papers

RefSeq Summary

This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and thi...

Pfam Domains

7tm_1aa 97–370UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

endothelin receptor type A

HGNC Alias Symbols

ET-A; ETA-R; hET-AR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
12 papers
NM_001957.4
p.S77S
c.231A>G
9 papers
NM_001957.4
p.Y129F
c.386A>T
4 papers
NM_001957.4
p.E303K
c.907G>A
3 papers
NM_001957.4
p.E24Q
c.70G>C
3 papers
NM_001957.4
p.Y129H
c.385T>C
3 papers
NM_001957.4
p.Y275Y
c.825C>T
2 papers
NM_001957.4
p.T3I
c.8C>T
2 papers
NM_001957.4
p.I86V
c.256A>G
2 papers
NM_001957.4
p.I136L
c.406A>C
2 papers
NM_001957.4
p.G197R
c.589G>A
2 papers
NM_001957.4
p.H323H
c.969T>C
2 papers
NM_001957.4
p.R340*
c.1018C>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."