Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.G197R

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.G197R
c.589G>A
Surrounding Variants
1 paper
NM_001957.4
p.G197R
c.589G>C
1 paper
NM_001957.4
p.L200_V201ins1
c.600_601insGTG
1 paper
NM_001957.4
p.W190*
c.570G>A
1 paper
NM_001957.4
p.W190*
c.569G>A
1 paper
NM_001957.4
p.I206S
c.617T>G
1 paper
NM_001957.4
p.L212L
c.636G>A
1 paper
NM_001957.4
p.I222T
c.665T>C
1 paper
NM_001957.4
p.G223S
c.667G>A
1 paper
NM_001957.4
p.F224F
c.672C>T
1 paper
NM_001957.4
p.Y231C
c.692A>G
1 paper
NM_001957.4
p.G233S
c.697G>A
1 paper
NM_001957.4
p.Q235delFs
c.705delG
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