Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.R47H

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.R47H
c.140G>A
Surrounding Variants
2 papers
NM_001264.5
p.R47C
c.139C>T
1 paper
NM_001264.5
p.T46K
c.137C>A
4 papers
NM_001264.5
p.P45L
c.134C>T
2 papers
NM_001264.5
p.T49I
c.146C>T
1 paper
NM_001264.5
p.T49S
c.146C>G
1 paper
NM_001264.5
p.T49T
c.147C>T
1 paper
NM_001264.5
p.S50P
c.148T>C
1 paper
NM_001264.5
p.D44E
c.132C>G
1 paper
NM_001264.5
p.D44E
c.132C>A
1 paper
NM_001264.5
p.D44A
c.131A>C
1 paper
NM_001264.5
p.D44N
c.130G>A
1 paper
NM_001264.5
p.P51insFs
c.151_152insC
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."