Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.R52H

EDN1

405 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its c...

Pfam Domains

Endothelinaa 49–77UCSCEndothelin family
Endothelinaa 49–77UCSCEndothelin family

Gene Aliases

HGNC Name

endothelin 1

HGNC Alias Symbol

ET1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001955.5
p.R52H
c.155G>A
Surrounding Variants
1 paper
NM_001955.5
p.S50P
c.148T>C
1 paper
NM_001955.5
p.S50A
c.148T>G
1 paper
NM_001955.5
p.R49G
c.145C>G
1 paper
NM_001955.5
p.S56W
c.167C>G
1 paper
NM_001955.5
p.R48H
c.143G>A
1 paper
NM_001955.5
p.L47L
c.141C>A
4 papers
NM_001955.5
p.R46_L47insFs
c.138_139insA
2 papers
NM_001955.5
p.L58L
c.174G>C
3 papers
NM_001955.5
p.W45insFs
c.134_135insA
1 paper
NM_001955.5
p.W45L
c.134G>T
1 paper
NM_001955.5
p.D60N
c.178G>A
1 paper
NM_001955.5
p.E62K
c.184G>A
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