Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S132P

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.S132P
c.394T>C
Surrounding Variants
1 paper
NM_001264.5
p.S132F
c.395C>T
1 paper
NM_001264.5
p.G130insFs
c.388dupG
1 paper
NM_001264.5
p.G130V
c.389G>T
1 paper
NM_001264.5
p.G130R
c.388G>C
1 paper
NM_001264.5
p.S129S
c.387C>A
1 paper
NM_001264.5
p.S129A
c.385T>G
2 papers
NM_001264.5
p.S129T
c.385T>A
1 paper
NM_001264.5
p.G135A
c.404G>C
1 paper
NM_001264.5
p.G135E
c.404G>A
5 papers
NM_001264.5
p.A128V
c.383C>T
1 paper
NM_001264.5
p.G127D
c.380G>A
1 paper
NM_001264.5
p.S138N
c.413G>A
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