Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.P309L

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.P309L
c.926C>T
Surrounding Variants
1 paper
NM_001264.5
p.V308A
c.923T>C
1 paper
NM_001264.5
p.V308L
c.922G>C
1 paper
NM_001264.5
p.L307del1
c.919_921delCAG
1 paper
NM_001264.5
p.Y306F
c.917A>T
1 paper
NM_001264.5
p.Y313F
c.938A>T
1 paper
NM_001264.5
p.S314N
c.941G>A
1 paper
NM_001264.5
p.S303S
c.909T>G
1 paper
NM_001264.5
p.S303A
c.907T>G
1 paper
NM_001264.5
p.S302A
c.904T>G
1 paper
NM_001264.5
p.G301R
c.901G>C
1 paper
NM_001264.5
p.I318N
c.953T>A
1 paper
NM_001264.5
p.Y319Y
c.957C>T
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