Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.T57fs

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
3 papers
NM_001264.5
p.T57fs
c.169_170fs
Surrounding Variants
1 paper
NM_001264.5
p.T57S
c.169A>T
1 paper
NM_001264.5
p.T57S
c.170C>G
4 papers
NM_001264.5
p.C55_L56insFs
c.164_167dup4
1 paper
NM_001264.5
p.T57T
c.171T>A
1 paper
NM_001264.5
p.G58R
c.172G>C
3 papers
NM_001264.5
p.L56F
c.166C>T
1 paper
NM_001264.5
p.G58G
c.174G>T
13 papers
NM_001264.5
p.K59*
c.175A>T
2 papers
NM_001264.5
p.K59M
c.176A>T
1 paper
NM_001264.5
p.P54T
c.160C>A
1 paper
NM_001264.5
p.D53E
c.159C>G
1 paper
NM_001264.5
p.D53E
c.159C>A
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