Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.V12L

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.V12L
c.34G>T
Surrounding Variants
1 paper
NM_001264.5
p.R11H
c.32G>A
2 papers
NM_001264.5
p.G13C
c.37G>T
1 paper
NM_001264.5
p.G13S
c.37G>A
1 paper
NM_001264.5
p.R11S
c.31C>A
1 paper
NM_001264.5
p.G13V
c.38G>T
4 papers
NM_001264.5
p.G13D
c.38G>A
1 paper
NM_001264.5
p.G13insFs
c.38_39insG
1 paper
NM_001264.5
p.G10R
c.28G>C
1 paper
NM_001264.5
p.G10R
c.28G>A
1 paper
NM_001264.5
p.M9I
c.27G>C
1 paper
NM_001264.5
p.M9R
c.26T>G
1 paper
NM_001264.5
p.W8*
c.24G>A
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