Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.R46Q

DSG2

779 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 164–263UCSCCadherin domain
Cadherinaa 278–378UCSCCadherin domain
Cadherinaa 396–490UCSCCadherin domain

Gene Aliases

HGNC Name

desmoglein 2

HGNC Alias Symbol

CDHF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
32 papers
NM_001943.5
p.R46Q
c.137G>A
Surrounding Variants
17 papers
NM_001943.5
p.R46W
c.136C>T
2 papers
NM_001943.5
p.K48M
c.143A>T
2 papers
NM_001943.5
p.K48N
c.144G>C
2 papers
NM_001943.5
p.K48N
c.144G>T
3 papers
NM_001943.5
p.R49C
c.145C>T
33 papers
NM_001943.5
p.R49H
c.146G>A
1 paper
NM_001943.5
p.R49P
c.146G>C
1 paper
NM_001943.5
p.A50_W51delFs
c.148_151del4
1 paper
NM_001943.5
p.H41R
c.122A>G
1 paper
NM_001943.5
p.W51*
c.152G>A
2 papers
NM_001943.5
p.W51S
c.152G>C
3 papers
NM_001943.5
p.W51L
c.152G>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."