Varaico: Literature-Extracted Genetic Variants

Gene:EDN1

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
1–12 of 134 variants
176 papers
NM_001955.5
p.K198N
c.594G>T
173 papers
NM_001955.5
p.K198N
c.594G>C
4 papers
NM_001955.5
p.D2N
c.4G>A
4 papers
NM_001955.5
p.G36R
c.106G>A
4 papers
NM_001955.5
p.G36R
c.106G>C
4 papers
NM_001955.5
p.R46_L47insFs
c.138_139insA
4 papers
NM_001955.5
p.K91E
c.271A>G
4 papers
NM_001955.5
p.G152E
c.455G>A
3 papers
NM_001955.5
p.L10V
c.28C>G
3 papers
NM_001955.5
p.W45insFs
c.134_135insA
3 papers
NM_001955.5
p.V64D
c.191T>A
3 papers
NM_001955.5
p.P77H
c.230C>A
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