Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.G120R

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.G120R
c.358G>A
Surrounding Variants
1 paper
NM_001264.5
p.G120R
c.358G>C
1 paper
NM_001264.5
p.S119S
c.357C>A
1 paper
NM_001264.5
p.S121A
c.361T>G
1 paper
NM_001264.5
p.G122R
c.364G>C
1 paper
NM_001264.5
p.S116_Y117delFs
c.346_350del5
1 paper
NM_001264.5
p.S116_Y117insFs
c.348_349insC
2 papers
NM_001264.5
p.G122delFs
c.366delG
1 paper
NM_001264.5
p.S116delFs
c.348delG
1 paper
NM_001264.5
p.S116_Y117insFs
c.348_349insT
1 paper
NM_001264.5
p.S123S
c.369T>A
1 paper
NM_001264.5
p.V115_S116insFs
c.345_346insT
1 paper
NM_001264.5
p.L125L
c.373C>T
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