Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.E187insFs

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
9 papers
NM_207034.3
p.E187insFs
c.559_560insA
Surrounding Variants
2 papers
NM_207034.3
p.E187fs
c.559_560fs
1 paper
NM_207034.3
p.T189_D190delFs
c.565_568del4
3 papers
NM_207034.3
p.T185M
c.554C>T
1 paper
NM_207034.3
p.T189fs
c.565_566fs
2 papers
NM_207034.3
p.T189_D190delFs
c.567_568delAG
1 paper
NM_207034.3
p.R184W
c.550A>T
1 paper
NM_207034.3
p.D190fs
c.568_569fs
1 paper
NM_207034.3
p.D190fs
c.568_569fs
1 paper
NM_207034.3
p.K196_V197Splc
c.588+1G>A
1 paper
NM_207034.3
p.S181Splc
c.542+119C>T
1 paper
NM_207034.3
p.S181Splc
c.542+1G>A
1 paper
NM_207034.3
p.S180S
c.540C>T
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