Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.V64D

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
3 papers
NM_001955.5
p.V64D
c.191T>A
Surrounding Variants
1 paper
NM_001955.5
p.V64G
c.191T>G
2 papers
NM_001955.5
p.V64I
c.190G>A
1 paper
NM_001955.5
p.C63Y
c.188G>A
1 paper
NM_001955.5
p.C63R
c.187T>C
1 paper
NM_001955.5
p.F66F
c.198C>T
1 paper
NM_001955.5
p.E62K
c.184G>A
2 papers
NM_001955.5
p.E62Q
c.184G>C
1 paper
NM_001955.5
p.D60N
c.178G>A
2 papers
NM_001955.5
p.L58L
c.174G>C
1 paper
NM_001955.5
p.I71V
c.211A>G
1 paper
NM_001955.5
p.S56W
c.167C>G
1 paper
NM_001955.5
p.I72I
c.216T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."