Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.K43E

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.K43E
c.127A>G
Surrounding Variants
1 paper
NM_001264.5
p.C42*
c.126T>A
1 paper
NM_001264.5
p.C42insFs
c.124dupT
1 paper
NM_001264.5
p.C42S
c.125G>C
3 papers
NM_001264.5
p.C42S
c.124T>A
1 paper
NM_001264.5
p.D44N
c.130G>A
1 paper
NM_001264.5
p.P41P
c.123T>C
1 paper
NM_001264.5
p.P41P
c.123T>A
1 paper
NM_001264.5
p.D44A
c.131A>C
1 paper
NM_001264.5
p.D44E
c.132C>G
1 paper
NM_001264.5
p.D44E
c.132C>A
4 papers
NM_001264.5
p.P45L
c.134C>T
1 paper
NM_001264.5
p.D40A
c.119A>C
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