Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.F324S

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.F324S
c.971T>C
Surrounding Variants
1 paper
NM_001264.5
p.F324I
c.970T>A
1 paper
NM_001264.5
p.K326I
c.977A>T
1 paper
NM_001264.5
p.P320A
c.958C>G
1 paper
NM_001264.5
p.Y319Y
c.957C>T
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
1 paper
NM_001264.5
p.V330E
c.989T>A
1 paper
NM_001264.5
p.I318N
c.953T>A
1 paper
NM_001264.5
p.S314N
c.941G>A
1 paper
NM_001264.5
p.Y313F
c.938A>T
2 papers
NM_001264.5
p.P337S
c.1009C>T
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