Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S288C

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.S288C
c.863C>G
Surrounding Variants
1 paper
NM_001264.5
p.V289I
c.865G>A
1 paper
NM_001264.5
p.V289E
c.866T>A
1 paper
NM_001264.5
p.S292T
c.874T>A
1 paper
NM_001264.5
p.P282T
c.844C>A
1 paper
NM_001264.5
p.Y296delFs
c.888delG
2 papers
NM_001264.5
p.E297A
c.890A>C
1 paper
NM_001264.5
p.P279S
c.835C>T
1 paper
NM_001264.5
p.G301R
c.901G>C
1 paper
NM_001264.5
p.S302A
c.904T>G
1 paper
NM_001264.5
p.S274N
c.821G>A
1 paper
NM_001264.5
p.S303A
c.907T>G
1 paper
NM_001264.5
p.S303S
c.909T>G
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