Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.S247A

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.S247A
c.739T>G
Surrounding Variants
1 paper
NM_001264.5
p.S245F
c.734C>T
1 paper
NM_001264.5
p.S245A
c.733T>G
2 papers
NM_001264.5
p.G249fs
c.745_746fs
3 papers
NM_001264.5
p.G249delFs
c.746delC
1 paper
NM_001264.5
p.Q250K
c.748C>A
1 paper
NM_001264.5
p.S243P
c.727T>C
1 paper
NM_001264.5
p.R251R
c.753G>A
3 papers
NM_001264.5
p.P252fs
c.754_755fs
2 papers
NM_001264.5
p.P252L
c.755C>T
3 papers
NM_001264.5
p.P252delFs
c.754delG
1 paper
NM_001264.5
p.I240N
c.719T>A
11 papers
NM_001264.5
p.Y239*
c.717C>G
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