Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.T30I

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.T30I
c.89C>T
Surrounding Variants
1 paper
NM_001264.5
p.T30N
c.89C>A
1 paper
NM_001264.5
p.L31M
c.91T>A
2 papers
NM_001264.5
p.G29R
c.85G>C
3 papers
NM_001264.5
p.G29R
c.85G>A
1 paper
NM_001264.5
p.L31L
c.93G>A
1 paper
NM_001264.5
p.A32T
c.94G>A
1 paper
NM_001264.5
p.A32G
c.95C>G
1 paper
NM_001264.5
p.S34R
c.100A>C
1 paper
NM_001264.5
p.S34N
c.101G>A
1 paper
NM_001264.5
p.S34R
c.102C>G
1 paper
NM_001264.5
p.S34R
c.102C>A
2 papers
NM_001264.5
p.I35N
c.104T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."