Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.I104delFs

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.I104delFs
c.310delA
Surrounding Variants
1 paper
NM_001957.4
p.R103K
c.308G>A
1 paper
NM_001957.4
p.Q107Q
c.321G>A
1 paper
NM_001957.4
p.K109*
c.325A>T
1 paper
NM_001957.4
p.G97V
c.290G>T
1 paper
NM_001957.4
p.V93A
c.278T>C
1 paper
NM_001957.4
p.F91L
c.273C>G
2 papers
NM_001957.4
p.I86V
c.256A>G
1 paper
NM_001957.4
p.L122insFs
c.365_366insT
1 paper
NM_001957.4
p.L124F
c.370C>T
1 paper
NM_001957.4
p.G125A
c.374G>C
1 paper
NM_001957.4
p.D126E
c.378C>A
3 papers
NM_001957.4
p.Y129H
c.385T>C
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