Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.E122Splc

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.E122Splc
c.366-56G>C
Surrounding Variants
6 papers
NM_207034.3
p.Y127C
c.380A>G
1 paper
NM_207034.3
p.S130S
c.390C>G
1 paper
NM_207034.3
p.N131_R137delFs
c.393_411del19
1 paper
NM_207034.3
p.S135R
c.403A>C
1 paper
NM_207034.3
p.S135R
c.405C>A
1 paper
NM_207034.3
p.S135R
c.405C>G
2 papers
NM_207034.3
p.R137W
c.409C>T
2 papers
NM_207034.3
p.G143E
c.428G>A
1 paper
NM_207034.3
p.P146A
c.436C>G
1 paper
NM_207034.3
p.R154Q
c.461G>A
1 paper
NM_207034.3
p.H156D
c.466C>G
1 paper
NM_207034.3
p.R158C
c.472C>T
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