Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.H323H

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
2 papers
NM_001957.4
p.H323H
c.969T>C
Surrounding Variants
1 paper
NM_001957.4
p.L322L
c.966T>G
1 paper
NM_001957.4
p.L322V
c.964C>G
1 paper
NM_001957.4
p.K329E
c.985A>G
1 paper
NM_001957.4
p.V332_Y333delFs
c.996_997delGT
1 paper
NM_001957.4
p.V332L
c.994G>T
1 paper
NM_001957.4
p.Y333*
c.999T>A
1 paper
NM_001957.4
p.Y333*
c.999T>G
1 paper
NM_001957.4
p.N334S
c.1001A>G
1 paper
NM_001957.4
p.E335K
c.1003G>A
1 paper
NM_001957.4
p.E335E
c.1005G>A
1 paper
NM_001957.4
p.V308V
c.924T>C
2 papers
NM_001957.4
p.R340*
c.1018C>T
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