Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.E33E

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.E33E
c.99G>A
Surrounding Variants
1 paper
NM_001955.5
p.E33D
c.99G>C
1 paper
NM_001955.5
p.G35S
c.103G>A
4 papers
NM_001955.5
p.G36R
c.106G>A
4 papers
NM_001955.5
p.G36R
c.106G>C
1 paper
NM_001955.5
p.V31E
c.92T>A
1 paper
NM_001955.5
p.V31A
c.92T>C
1 paper
NM_001955.5
p.E37K
c.109G>A
1 paper
NM_001955.5
p.L28F
c.82C>T
1 paper
NM_001955.5
p.T40I
c.119C>T
1 paper
NM_001955.5
p.E27Q
c.79G>C
1 paper
NM_001955.5
p.L24F
c.72A>C
1 paper
NM_001955.5
p.L24F
c.72A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."