Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.R41C

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.R41C
c.121C>T
Surrounding Variants
1 paper
NM_001957.4
p.G42D
c.125G>A
1 paper
NM_001957.4
p.E44E
c.132G>A
1 paper
NM_001957.4
p.V34M
c.100G>A
1 paper
NM_001957.4
p.H33delFs
c.98_99delAT
1 paper
NM_001957.4
p.H33fs
c.97_98fs
1 paper
NM_001957.4
p.V49insFs
c.146_147ins7
1 paper
NM_001957.4
p.T50fs
c.148_149fs
1 paper
NM_001957.4
p.S31N
c.92G>A
1 paper
NM_001957.4
p.T51delFs
c.153delT
1 paper
NM_001957.4
p.L30P
c.89T>C
1 paper
NM_001957.4
p.H52fs
c.154_155fs
1 paper
NM_001957.4
p.Q53*
c.157C>T
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