Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.H33delFs

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.H33delFs
c.98_99delAT
Surrounding Variants
1 paper
NM_001957.4
p.H33fs
c.97_98fs
1 paper
NM_001957.4
p.V34M
c.100G>A
1 paper
NM_001957.4
p.S31N
c.92G>A
1 paper
NM_001957.4
p.L30P
c.89T>C
1 paper
NM_001957.4
p.Y26C
c.77A>G
1 paper
NM_001957.4
p.R41C
c.121C>T
3 papers
NM_001957.4
p.E24Q
c.70G>C
1 paper
NM_001957.4
p.G42D
c.125G>A
1 paper
NM_001957.4
p.P23H
c.68C>A
1 paper
NM_001957.4
p.E44E
c.132G>A
1 paper
NM_001957.4
p.D21Y
c.61G>T
1 paper
NM_001957.4
p.G16G
c.48A>G
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