Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.I116L

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
Selected Variant
1 paper
NM_207034.3
p.I116L
c.346A>C
Surrounding Variants
1 paper
NM_207034.3
p.I116M
c.348T>G
1 paper
NM_207034.3
p.L113L
c.337C>T
4 papers
NM_207034.3
p.H112R
c.335A>G
1 paper
NM_207034.3
p.C111F
c.332G>T
1 paper
NM_207034.3
p.E122Splc
c.365+9G>A
1 paper
NM_207034.3
p.D104A
c.311A>C
1 paper
NM_207034.3
p.D104N
c.310G>A
1 paper
NM_207034.3
p.Y102*
c.306C>A
1 paper
NM_207034.3
p.Y102*
c.306C>G
2 papers
NM_207034.3
p.E122Splc
c.365+23G>A
1 paper
NM_207034.3
p.T101I
c.302C>T
3 papers
NM_207034.3
p.T98K
c.293C>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."