Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.A70P

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.A70P
c.208G>C
Surrounding Variants
1 paper
NM_207034.3
p.G64R
c.190G>A
1 paper
NM_207034.3
p.G77G
c.231A>G
1 paper
NM_207034.3
p.G62insFs
c.185_186insT
1 paper
NM_207034.3
p.G60S
c.178G>A
1 paper
NM_207034.3
p.G80_Q81delFs
c.240_241delGC
1 paper
NM_207034.3
p.E56delFs
c.168delG
6 papers
NM_207034.3
p.E55*
c.163G>T
1 paper
NM_207034.3
p.G54G
c.162C>T
2 papers
NM_207034.3
p.A88insFs
c.262_263insG
1 paper
NM_207034.3
p.E86D
c.258G>C
1 paper
NM_207034.3
p.E86D
c.258G>T
3 papers
NM_207034.3
p.A88Fs
c.262_263delinsTFs
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