Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.M18L

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
5 papers
NM_001264.5
p.M18L
c.52A>T
Surrounding Variants
2 papers
NM_001264.5
p.M18V
c.52A>G
3 papers
NM_001264.5
p.M18L
c.52A>C
1 paper
NM_001264.5
p.M17V
c.49A>G
1 paper
NM_001264.5
p.A19V
c.56C>T
1 paper
NM_001264.5
p.A19G
c.56C>G
1 paper
NM_001264.5
p.G16R
c.46G>C
2 papers
NM_001264.5
p.G16R
c.46G>A
1 paper
NM_001264.5
p.H15L
c.44A>T
2 papers
NM_001264.5
p.L21L
c.61C>T
1 paper
NM_001264.5
p.L21V
c.61C>G
1 paper
NM_001264.5
p.L22L
c.64C>T
2 papers
NM_001264.5
p.L22V
c.64C>G
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