Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.C15F

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.C15F
c.44G>T
Surrounding Variants
1 paper
NM_001955.5
p.C15insFs
c.44_45insG
1 paper
NM_001955.5
p.Q16Q
c.48A>G
1 paper
NM_001955.5
p.G17R
c.49G>A
1 paper
NM_001955.5
p.G17R
c.49G>C
1 paper
NM_001955.5
p.G17E
c.50G>A
1 paper
NM_001955.5
p.F12Y
c.35T>A
1 paper
NM_001955.5
p.P19S
c.55C>T
1 paper
NM_001955.5
p.L10L
c.30G>A
2 papers
NM_001955.5
p.L10P
c.29T>C
3 papers
NM_001955.5
p.L10V
c.28C>G
1 paper
NM_001955.5
p.T21A
c.61A>G
1 paper
NM_001955.5
p.S9S
c.27T>C
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