Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.F190L

EDN1

405 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its c...

Pfam Domains

Endothelinaa 49–77UCSCEndothelin family
Endothelinaa 49–77UCSCEndothelin family

Gene Aliases

HGNC Name

endothelin 1

HGNC Alias Symbol

ET1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001955.5
p.F190L
c.570T>A
Surrounding Variants
1 paper
NM_001955.5
p.F190L
c.570T>G
1 paper
NM_001955.5
p.F190L
c.568T>C
1 paper
NM_001955.5
p.H191H
c.573T>C
1 paper
NM_001955.5
p.G197A
c.590G>C
1 paper
NM_001955.5
p.K198Q
c.592A>C
1 paper
NM_001955.5
p.R183K
c.548G>A
1 paper
NM_001955.5
p.R183G
c.547A>G
1 paper
NM_001955.5
p.M182I
c.546G>A
173 papers
NM_001955.5
p.K198N
c.594G>C
1 paper
NM_001955.5
p.M182I
c.546G>C
176 papers
NM_001955.5
p.K198N
c.594G>T
1 paper
NM_001955.5
p.M182I
c.546G>T
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