Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.E55*

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
6 papers
NM_207034.3
p.E55*
c.163G>T
Surrounding Variants
1 paper
NM_207034.3
p.G54G
c.162C>T
1 paper
NM_207034.3
p.E56delFs
c.168delG
1 paper
NM_207034.3
p.G60S
c.178G>A
2 papers
NM_207034.3
p.E48D
c.144G>C
2 papers
NM_207034.3
p.E48D
c.144G>T
1 paper
NM_207034.3
p.E48V
c.143A>T
1 paper
NM_207034.3
p.E48K
c.142G>A
1 paper
NM_207034.3
p.E56_G64ins3
c.167_190dup24
1 paper
NM_207034.3
p.G62insFs
c.185_186insT
1 paper
NM_207034.3
p.G64R
c.190G>A
1 paper
NM_207034.3
p.R41I
c.122G>T
1 paper
NM_207034.3
p.A70P
c.208G>C
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