Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.A88Fs

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
3 papers
NM_207034.3
p.A88Fs
c.262_263delinsTFs
Surrounding Variants
1 paper
NM_207034.3
p.P89S
c.265C>T
1 paper
NM_207034.3
p.E86D
c.258G>C
1 paper
NM_207034.3
p.E86D
c.258G>T
2 papers
NM_207034.3
p.A88insFs
c.262_263insG
1 paper
NM_207034.3
p.E90del1
c.268_269delGAG
1 paper
NM_207034.3
p.E90A
c.269A>C
1 paper
NM_207034.3
p.H91Q
c.273C>G
1 paper
NM_207034.3
p.R93_S94delFs
c.278_281del4
3 papers
NM_207034.3
p.R93G
c.277C>G
1 paper
NM_207034.3
p.R93Q
c.278G>A
1 paper
NM_207034.3
p.R95S
c.285G>C
1 paper
NM_207034.3
p.R95S
c.285G>T
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