Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.K118N

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.K118N
c.354G>T
Surrounding Variants
1 paper
NM_001955.5
p.K118N
c.354G>C
1 paper
NM_001955.5
p.N121Y
c.361A>T
2 papers
NM_001955.5
p.D116N
c.346G>A
1 paper
NM_001955.5
p.K115R
c.344A>G
1 paper
NM_001955.5
p.F122L
c.366T>A
1 paper
NM_001955.5
p.A125T
c.373G>A
1 paper
NM_001955.5
p.G126R
c.376G>A
1 paper
NM_001955.5
p.G126E
c.377G>A
1 paper
NM_001955.5
p.E128Q
c.382G>C
1 paper
NM_001955.5
p.C109R
c.325T>C
3 papers
NM_001955.5
p.E106E
c.318A>G
1 paper
NM_001955.5
p.R130Splc
c.389+1G>A
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