Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.N143insFs

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
1 paper
NM_001264.5
p.N143insFs
c.428_429insG
Surrounding Variants
5 papers
NM_001264.5
p.N143S
c.428A>G
1 paper
NM_001264.5
p.N143fs
c.427_428fs
1 paper
NM_001264.5
p.G142del1
c.424_425delTCC
1 paper
NM_001264.5
p.G142fs
c.424_425fs
1 paper
NM_001264.5
p.G142V
c.425G>T
1 paper
NM_001264.5
p.S144N
c.431G>A
1 paper
NM_001264.5
p.G142E
c.425G>A
4 papers
NM_001264.5
p.G142*
c.424G>T
3 papers
NM_001264.5
p.S144R
c.432C>G
18 papers
NM_001264.5
p.G145R
c.433G>C
1 paper
NM_001264.5
p.G145V
c.434G>T
3 papers
NM_001264.5
p.G145A
c.434G>C
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