Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.V255A

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.V255A
c.764T>C
Surrounding Variants
1 paper
NM_001264.5
p.V257M
c.769G>A
3 papers
NM_001264.5
p.P252delFs
c.754delG
2 papers
NM_001264.5
p.P252L
c.755C>T
2 papers
NM_001264.5
p.V257_D258del1
c.770_772delCCA
3 papers
NM_001264.5
p.P252fs
c.754_755fs
1 paper
NM_001264.5
p.R251R
c.753G>A
1 paper
NM_001264.5
p.V257_D258del2
c.769_773del6
1 paper
NM_001264.5
p.H260R
c.779A>G
1 paper
NM_001264.5
p.Q250K
c.748C>A
3 papers
NM_001264.5
p.G249delFs
c.746delC
2 papers
NM_001264.5
p.G261V
c.782G>T
1 paper
NM_001264.5
p.G261A
c.782G>C
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