Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.C159F

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
7 papers
NM_207034.3
p.C159F
c.476G>T
Surrounding Variants
1 paper
NM_207034.3
p.R158C
c.472C>T
1 paper
NM_207034.3
p.H156D
c.466C>G
1 paper
NM_207034.3
p.R154Q
c.461G>A
1 paper
NM_207034.3
p.D166E
c.498C>A
1 paper
NM_207034.3
p.D166E
c.498C>G
5 papers
NM_207034.3
p.C169*
c.507C>A
1 paper
NM_207034.3
p.P146A
c.436C>G
4 papers
NM_207034.3
p.C173R
c.517T>C
2 papers
NM_207034.3
p.G143E
c.428G>A
1 paper
NM_207034.3
p.L177V
c.529C>G
1 paper
NM_207034.3
p.V179F
c.535G>T
1 paper
NM_207034.3
p.S180S
c.540C>T
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