Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S139A

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.S139A
c.415T>G
Surrounding Variants
1 paper
NM_001264.5
p.S139P
c.415T>C
2 papers
NM_001264.5
p.S139T
c.415T>A
1 paper
NM_001264.5
p.S139Y
c.416C>A
1 paper
NM_001264.5
p.S138N
c.413G>A
2 papers
NM_001264.5
p.H140Y
c.418C>T
1 paper
NM_001264.5
p.H140N
c.418C>A
2 papers
NM_001264.5
p.H140L
c.419A>T
4 papers
NM_001264.5
p.G142*
c.424G>T
1 paper
NM_001264.5
p.G142V
c.425G>T
1 paper
NM_001264.5
p.G142E
c.425G>A
1 paper
NM_001264.5
p.G135A
c.404G>C
1 paper
NM_001264.5
p.G135E
c.404G>A
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