Varaico: Literature-Extracted Genetic Variants

Gene:EDN3

EDN3

164 papers

RefSeq Summary

The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this pr...

Pfam Domains

Endothelinaa 93–121UCSCEndothelin family

Gene Aliases

HGNC Name

endothelin 3

HGNC Alias Symbol

ET3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 124 variants
9 papers
NM_207034.3
p.E187insFs
c.559_560insA
7 papers
NM_207034.3
p.A17T
c.49G>A
7 papers
NM_207034.3
p.C159F
c.476G>T
6 papers
NM_207034.3
p.E55*
c.163G>T
6 papers
NM_207034.3
p.Y127C
c.380A>G
5 papers
NM_207034.3
p.C169*
c.507C>A
4 papers
NM_207034.3
p.H112R
c.335A>G
4 papers
NM_207034.3
p.C173R
c.517T>C
3 papers
NM_207034.3
p.L7I
c.19C>A
3 papers
NM_207034.3
p.A88Fs
c.262_263delinsTFs
3 papers
NM_207034.3
p.R93G
c.277C>G
3 papers
NM_207034.3
p.T98K
c.293C>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."