Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.D53E

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.D53E
c.159C>A
Surrounding Variants
1 paper
NM_001264.5
p.D53E
c.159C>G
1 paper
NM_001264.5
p.P54T
c.160C>A
1 paper
NM_001264.5
p.D53A
c.158A>C
1 paper
NM_001264.5
p.D53N
c.157G>A
1 paper
NM_001264.5
p.P51delFs
c.153delA
1 paper
NM_001264.5
p.P51insFs
c.151_152insC
2 papers
NM_001264.5
p.S50delFs
c.149_150delGG
3 papers
NM_001264.5
p.L56F
c.166C>T
4 papers
NM_001264.5
p.C55_L56insFs
c.164_167dup4
3 papers
NM_001264.5
p.T57fs
c.169_170fs
1 paper
NM_001264.5
p.T57S
c.169A>T
1 paper
NM_001264.5
p.S50P
c.148T>C
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."