Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S197T

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.S197T
c.589T>A
Surrounding Variants
1 paper
NM_001264.5
p.S198A
c.592T>G
1 paper
NM_001264.5
p.S196T
c.586T>A
1 paper
NM_001264.5
p.S199P
c.595T>C
1 paper
NM_001264.5
p.S195C
c.583A>T
14 papers
NM_001264.5
p.Q200*
c.598C>T
1 paper
NM_001264.5
p.Q194*
c.580C>T
1 paper
NM_001264.5
p.Q200H
c.600G>T
1 paper
NM_001264.5
p.Q200Q
c.600G>A
1 paper
NM_001264.5
p.P192del1
c.574_576delAGG
1 paper
NM_001264.5
p.P192L
c.575C>T
6 papers
NM_001264.5
p.F202S
c.605T>C
1 paper
NM_001264.5
p.Q191L
c.572A>T
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