Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.Y275Y

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
3 papers
NM_001957.4
p.Y275Y
c.825C>T
Surrounding Variants
1 paper
NM_001166055.2
p.L168P
c.503T>C
1 paper
NM_001957.4
p.C270Y
c.809G>A
1 paper
NM_001957.4
p.E281D
c.843G>C
1 paper
NM_001957.4
p.E281D
c.843G>T
1 paper
NM_001957.4
p.M282K
c.845T>A
1 paper
NM_001957.4
p.M266I
c.798G>C
1 paper
NM_001957.4
p.W257*
c.771G>A
1 paper
NM_001957.4
p.W257*
c.770G>A
1 paper
NM_001957.4
p.D256_W257insFs
c.768_769insAG
1 paper
NM_001957.4
p.D256N
c.766G>A
1 paper
NM_001957.4
p.Y251fs
c.751_752fs
1 paper
NM_001957.4
p.Y251delFs
c.752_753delAC
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