Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.S15A

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.S15A
c.43T>G
Surrounding Variants
7 papers
NM_207034.3
p.A17T
c.49G>A
1 paper
NM_207034.3
p.V13L
c.37G>C
1 paper
NM_207034.3
p.T12delFs
c.35delC
1 paper
NM_207034.3
p.G18Splc
c.52+1G>A
1 paper
NM_207034.3
p.G10_L11insFs
c.30_31insT
2 papers
NM_207034.3
p.G18Splc
c.52+7G>A
3 papers
NM_207034.3
p.L7I
c.19C>A
1 paper
NM_207034.3
p.L5_T12delFs
c.15_36del22
2 papers
NM_207034.3
p.G4A
c.11G>C
1 paper
NM_207034.3
p.G18Splc
c.52+236G>A
1 paper
NM_207034.3
p.G18Splc
c.53-126G>T
2 papers
NM_207034.3
p.G18Splc
c.53-57C>T
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