Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.D2N

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
4 papers
NM_001955.5
p.D2N
c.4G>A
Surrounding Variants
1 paper
NM_001955.5
p.D2H
c.4G>C
2 papers
NM_001955.5
p.D2Y
c.4G>T
1 paper
NM_001955.5
p.M1I
c.3G>A
2 papers
NM_001955.5
p.M1I
c.3G>C
1 paper
NM_001955.5
p.M1K
c.2T>A
1 paper
NM_001955.5
p.M1T
c.2T>C
1 paper
NM_001955.5
p.M1L
c.1A>C
1 paper
NM_001955.5
p.Y3Y
c.9T>C
1 paper
NM_001955.5
p.L4M
c.10T>A
1 paper
NM_001955.5
p.L5L
c.15C>T
1 paper
NM_001955.5
p.S9S
c.27T>C
3 papers
NM_001955.5
p.L10V
c.28C>G
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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."