Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.P337S

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
2 papers
NM_001264.5
p.P337S
c.1009C>T
Surrounding Variants
1 paper
NM_001264.5
p.P337T
c.1009C>A
1 paper
NM_001264.5
p.P337L
c.1010C>T
1 paper
NM_001264.5
p.P337R
c.1010C>G
1 paper
NM_001264.5
p.P337H
c.1010C>A
2 papers
NM_001264.5
p.S338A
c.1012T>G
1 paper
NM_001264.5
p.A341V
c.1022C>T
1 paper
NM_001264.5
p.V330E
c.989T>A
1 paper
NM_001264.5
p.P329P
c.987T>G
1 paper
NM_001264.5
p.P329P
c.987T>C
1 paper
NM_001264.5
p.P329P
c.987T>A
3 papers
NM_001264.5
p.I345fs
c.1033_1034fs
1 paper
NM_001264.5
p.I345_S346insT
c.1033_1037ins3
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