Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S80insFs

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
2 papers
NM_001264.5
p.S80insFs
c.238_239insG
Surrounding Variants
1 paper
NM_001264.5
p.S79A
c.235T>G
1 paper
NM_001264.5
p.A81S
c.241G>T
1 paper
NM_001264.5
p.A81D
c.242C>A
1 paper
NM_001264.5
p.I78N
c.233T>A
1 paper
NM_001264.5
p.S77S
c.231C>A
1 paper
NM_001264.5
p.S83_S84insA
c.247_251ins3
1 paper
NM_001264.5
p.S84F
c.251C>T
1 paper
NM_001264.5
p.G75G
c.225C>T
18 papers
NM_001264.5
p.G75V
c.224G>T
1 paper
NM_001264.5
p.G85R
c.253G>C
1 paper
NM_001264.5
p.G75R
c.223G>C
1 paper
NM_001264.5
p.S74P
c.220T>C
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