Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.G94R

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.G94R
c.280G>C
Surrounding Variants
1 paper
NM_001264.5
p.G94R
c.280G>A
1 paper
NM_001264.5
p.S93R
c.279C>A
1 paper
NM_001264.5
p.S93N
c.278G>A
1 paper
NM_001264.5
p.S95T
c.283T>A
1 paper
NM_001264.5
p.S96C
c.286A>T
1 paper
NM_001264.5
p.I97L
c.289A>C
1 paper
NM_001264.5
p.G90V
c.269G>T
2 papers
NM_001264.5
p.A98V
c.293C>T
1 paper
NM_001264.5
p.Q99*
c.295C>T
1 paper
NM_001264.5
p.G100R
c.298G>C
1 paper
NM_001264.5
p.G87D
c.260G>A
1 paper
NM_001264.5
p.G86delFs
c.257_258delAC
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