Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.C22S

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.C22S
c.65G>C
Surrounding Variants
1 paper
NM_207034.3
p.C22S
c.64T>A
1 paper
NM_207034.3
p.S23P
c.67T>C
1 paper
NM_207034.3
p.S23S
c.69C>T
1 paper
NM_207034.3
p.G26insFs
c.76dupG
1 paper
NM_207034.3
p.A28G
c.83C>G
2 papers
NM_207034.3
p.R31C
c.91C>T
1 paper
NM_207034.3
p.R31H
c.92G>A
1 paper
NM_207034.3
p.G32fs
c.94_95fs
1 paper
NM_207034.3
p.G32_A36Fs
c.95_106delinsCAFs
1 paper
NM_207034.3
p.P37H
c.110C>A
1 paper
NM_207034.3
p.T38delFs
c.112delA
1 paper
NM_207034.3
p.T38_G44delFs
c.112_131del20
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