Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.E95D

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.E95D
c.285G>T
Surrounding Variants
1 paper
NM_001955.5
p.E95D
c.285G>C
1 paper
NM_001955.5
p.L97L
c.289T>C
4 papers
NM_001955.5
p.K91E
c.271A>G
1 paper
NM_001955.5
p.R89G
c.265A>G
1 paper
NM_001955.5
p.T103A
c.307A>G
1 paper
NM_001955.5
p.P88S
c.262C>T
1 paper
NM_001955.5
p.D104N
c.310G>A
1 paper
NM_001955.5
p.D104A
c.311A>C
1 paper
NM_001955.5
p.G86R
c.256G>A
1 paper
NM_001955.5
p.G86R
c.256G>C
3 papers
NM_001955.5
p.E106E
c.318A>G
2 papers
NM_001955.5
p.Y83*
c.249T>A
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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."