Varaico: Literature-Extracted Genetic Variants

Gene:EDN2
Variant:p.R87C

EDN2

41 papers

RefSeq Summary

This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin...

Pfam Domains

Endothelinaa 45–73UCSCEndothelin family

Gene Aliases

HGNC Name

endothelin 2

HGNC Alias Symbol

ET2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001956.5
p.R87C
c.259C>T
Surrounding Variants
1 paper
NM_001956.5
p.R87H
c.260G>A
1 paper
NM_001956.5
p.R89S
c.265C>A
1 paper
NM_001956.5
p.P84_P85insFs
c.252_253insC
1 paper
NM_001956.5
p.P84fs
c.250_251fs
1 paper
NM_001956.5
p.R90C
c.268C>T
1 paper
NM_001956.5
p.R90G
c.268C>G
1 paper
NM_001956.5
p.G82E
c.245G>A
1 paper
NM_001956.5
p.L92M
c.274C>A
1 paper
NM_001956.5
p.A77T
c.229G>A
1 paper
NM_001956.5
p.W115Splc
c.344+1G>A
2 papers
NM_001956.5
p.W115Splc
c.345-4G>A
1 paper
NM_001956.5
p.D129N
c.385G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."