Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S408A

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
6 papers
NM_001264.5
p.S408A
c.1222T>G
Surrounding Variants
1 paper
NM_001264.5
p.G409S
c.1225G>A
3 papers
NM_001264.5
p.L410S
c.1229T>C
1 paper
NM_001264.5
p.I404I
c.1212T>A
1 paper
NM_001264.5
p.Y412Y
c.1236C>T
1 paper
NM_001264.5
p.C415R
c.1243T>C
4 papers
NM_001264.5
p.S401G
c.1201A>G
3 papers
NM_001264.5
p.G416V
c.1247G>T
1 paper
NM_001264.5
p.P399L
c.1196C>T
1 paper
NM_001264.5
p.A418insFs
c.1253_1254ins4
2 papers
NM_001264.5
p.S395insFs
c.1184_1185ins8
1 paper
NM_001264.5
p.C423Y
c.1268G>A
1 paper
NM_001264.5
p.C391S
c.1172G>C
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