Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.P217L

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.P217L
c.650C>T
Surrounding Variants
1 paper
NM_001264.5
p.P217S
c.649C>T
1 paper
NM_001264.5
p.R216C
c.646C>T
1 paper
NM_001264.5
p.S219G
c.655A>G
15 papers
NM_001264.5
p.Q215*
c.643C>T
1 paper
NM_001264.5
p.D221A
c.662A>C
2 papers
NM_001264.5
p.V211V
c.633C>T
1 paper
NM_001264.5
p.V211V
c.633C>G
1 paper
NM_001264.5
p.V211V
c.633C>A
1 paper
NM_001264.5
p.V211D
c.632T>A
1 paper
NM_001264.5
p.V211I
c.631G>A
1 paper
NM_001264.5
p.D224N
c.670G>A
1 paper
NM_001264.5
p.S210R
c.630C>G
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