Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.L509P

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.L509P
c.1526T>C
Surrounding Variants
1 paper
NM_001264.5
p.K507_P508insA
c.1519_1523ins3
1 paper
NM_001264.5
p.V506A
c.1517T>C
1 paper
NM_001264.5
p.L513I
c.1537C>A
3 papers
NM_001264.5
p.L513P
c.1538T>C
1 paper
NM_001264.5
p.D501N
c.1501G>A
1 paper
NM_001264.5
p.I499I
c.1497C>T
2 papers
NM_001264.5
p.L520_P521insG
c.1558_1562ins3
2 papers
NM_001264.5
p.P521S
c.1561C>T
1 paper
NM_001264.5
p.P521A
c.1561C>G
1 paper
NM_001264.5
p.P521T
c.1561C>A
1 paper
NM_001264.5
p.R497L
c.1490G>T
1 paper
NM_001264.5
p.P521L
c.1562C>T
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