Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.R96H

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.R96H
c.287G>A
Surrounding Variants
2 papers
NM_207034.3
p.R96C
c.286C>T
1 paper
NM_207034.3
p.R95S
c.285G>C
1 paper
NM_207034.3
p.R95S
c.285G>T
1 paper
NM_207034.3
p.T98A
c.292A>G
3 papers
NM_207034.3
p.T98K
c.293C>A
3 papers
NM_207034.3
p.T98M
c.293C>T
1 paper
NM_207034.3
p.R93Q
c.278G>A
3 papers
NM_207034.3
p.R93G
c.277C>G
1 paper
NM_207034.3
p.R93_S94delFs
c.278_281del4
1 paper
NM_207034.3
p.H91Q
c.273C>G
1 paper
NM_207034.3
p.T101I
c.302C>T
1 paper
NM_207034.3
p.E90A
c.269A>C
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