Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S352C

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.S352C
c.1055C>G
Surrounding Variants
1 paper
NM_001264.5
p.S346_Y350del5
c.1036_1049del15
1 paper
NM_001264.5
p.S353S
c.1059C>T
1 paper
NM_001264.5
p.N354Y
c.1060A>T
3 papers
NM_001264.5
p.N354D
c.1060A>G
1 paper
NM_001264.5
p.N354I
c.1061A>T
1 paper
NM_001264.5
p.N354S
c.1061A>G
2 papers
NM_001264.5
p.G348_K349insT
c.1042_1046ins3
1 paper
NM_001264.5
p.E347D
c.1041G>C
1 paper
NM_001264.5
p.I356delFs
c.1067_1068delGA
1 paper
NM_001264.5
p.E347insFs
c.1040_1041insT
1 paper
NM_001264.5
p.S346C
c.1037C>G
1 paper
NM_001264.5
p.S359C
c.1075A>T
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