Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.N62S

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
Selected Variant
1 paper
NM_001957.4
p.N62S
c.185A>G
Surrounding Variants
1 paper
NM_001957.4
p.S64A
c.190T>G
1 paper
NM_001957.4
p.N56H
c.166A>C
1 paper
NM_001957.4
p.Q53*
c.157C>T
1 paper
NM_001957.4
p.H52fs
c.154_155fs
1 paper
NM_001957.4
p.T73I
c.218C>T
1 paper
NM_001957.4
p.T51delFs
c.153delT
1 paper
NM_001957.4
p.T50fs
c.148_149fs
1 paper
NM_001957.4
p.I75S
c.224T>G
1 paper
NM_001957.4
p.V49insFs
c.146_147ins7
1 paper
NM_001957.4
p.T76P
c.226A>C
12 papers
NM_001957.4
p.S77S
c.231A>G
1 paper
NM_001957.4
p.E44E
c.132G>A
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."