Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.G469del1

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.G469del1
c.1405_1407delCCC
Surrounding Variants
1 paper
NM_001264.5
p.G470V
c.1409G>T
1 paper
NM_001264.5
p.D472H
c.1414G>C
1 paper
NM_001264.5
p.G469E
c.1406G>A
1 paper
NM_001264.5
p.G469R
c.1405G>C
1 paper
NM_001264.5
p.G469R
c.1405G>A
1 paper
NM_001264.5
p.D472A
c.1415A>C
1 paper
NM_001264.5
p.P475P
c.1425C>T
1 paper
NM_001264.5
p.H476Y
c.1426C>T
1 paper
NM_001264.5
p.P479S
c.1435C>T
1 paper
NM_001264.5
p.P479T
c.1435C>A
1 paper
NM_001264.5
p.V462L
c.1384G>C
2 papers
NM_001264.5
p.P479L
c.1436C>T
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