Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.A6V

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.A6V
c.17C>T
Surrounding Variants
1 paper
NM_001264.5
p.A6S
c.16G>T
1 paper
NM_001264.5
p.P7H
c.20C>A
1 paper
NM_001264.5
p.S4S
c.12T>C
1 paper
NM_001264.5
p.W8L
c.23G>T
1 paper
NM_001264.5
p.W8*
c.24G>A
1 paper
NM_001264.5
p.S3S
c.9G>A
1 paper
NM_001264.5
p.M9R
c.26T>G
1 paper
NM_001264.5
p.S3L
c.8C>T
1 paper
NM_001264.5
p.M9I
c.27G>C
1 paper
NM_001264.5
p.G10R
c.28G>C
1 paper
NM_001264.5
p.G10R
c.28G>A
1 paper
NM_001264.5
p.G2D
c.5G>A
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