Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.Y239*

CDSN

820 papers

RefSeq Summary

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte m...

Gene Aliases

HGNC Name

corneodesmosin

HGNC Alias Symbol

D6S586E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_001264.5
p.Y239*
c.717C>G
Surrounding Variants
11 papers
NM_001264.5
p.Y239*
c.717C>A
1 paper
NM_001264.5
p.Y239insFs
c.715_716insT
1 paper
NM_001264.5
p.I240N
c.719T>A
2 papers
NM_001264.5
p.P238S
c.712C>T
1 paper
NM_001264.5
p.P238_Y239insG
c.712_716ins3
1 paper
NM_001264.5
p.G237D
c.710G>A
1 paper
NM_001264.5
p.S236S
c.708C>T
1 paper
NM_001264.5
p.S243P
c.727T>C
1 paper
NM_001264.5
p.H235H
c.705C>T
1 paper
NM_001264.5
p.H235Y
c.703C>T
1 paper
NM_001264.5
p.S245A
c.733T>G
1 paper
NM_001264.5
p.S234*
c.701C>A
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