Varaico: Literature-Extracted Genetic Variants

Gene:CDSN

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
1–12 of 493 variants
18 papers
NM_001264.5
p.G75V
c.224G>T
18 papers
NM_001264.5
p.G145R
c.433G>C
15 papers
NM_001264.5
p.Q215*
c.643C>T
14 papers
NM_001264.5
p.Q200*
c.598C>T
13 papers
NM_001264.5
p.K59*
c.175A>T
11 papers
NM_001264.5
p.Y239*
c.717C>G
11 papers
NM_001264.5
p.Y239*
c.717C>A
9 papers
NM_001264.5
p.S72T
c.215G>C
8 papers
NM_001264.5
p.S453N
c.1358G>A
6 papers
NM_001264.5
p.F202S
c.605T>C
6 papers
NM_001264.5
p.S408A
c.1222T>G
5 papers
NM_001264.5
p.M18L
c.52A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."