Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.R964S

DSG3

129 papers

RefSeq Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, ce...

Pfam Domains

Cadherinaa 56–148UCSCCadherin domain
Cadherinaa 162–258UCSCCadherin domain
Cadherinaa 272–375UCSCCadherin domain

Gene Aliases

HGNC Name

desmoglein 3

HGNC Alias Symbol

CDHF6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001944.3
p.R964S
c.2892G>T
Surrounding Variants
1 paper
NM_001944.3
p.R964S
c.2892G>C
1 paper
NM_001944.3
p.I969_G974del6
c.2905_2921del18
1 paper
NM_001944.3
p.V959L
c.2875G>C
1 paper
NM_001944.3
p.V959L
c.2875G>T
1 paper
NM_001944.3
p.Q981*
c.2941C>T
1 paper
NM_001944.3
p.R983*
c.2947C>T
1 paper
NM_001944.3
p.R983Q
c.2948G>A
1 paper
NM_001944.3
p.V944M
c.2830G>A
1 paper
NM_001944.3
p.T934K
c.2801C>A
1 paper
NM_001944.3
p.R997H
c.2990G>A
1 paper
NM_001944.3
p.Q927H
c.2781G>C
1 paper
NM_001944.3
p.Q927H
c.2781G>T
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."