Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.N33S

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
2 papers
NM_001943.5
p.N33S
c.98A>G
Surrounding Variants
1 paper
NM_001943.5
p.N33I
c.98A>T
1 paper
NM_001943.5
p.N33D
c.97A>G
1 paper
NM_001943.5
p.E34D
c.102A>T
3 papers
NM_001943.5
p.N35K
c.105T>A
3 papers
NM_001943.5
p.N35K
c.105T>G
1 paper
NM_001943.5
p.L29fs
c.85_86fs
1 paper
NM_001943.5
p.L29fs
c.85_86fs
2 papers
NM_001943.5
p.Q27_V28Splc
c.82-1G>A
2 papers
NM_001943.5
p.H41N
c.121C>A
1 paper
NM_001943.5
p.H41R
c.122A>G
17 papers
NM_001943.5
p.R46W
c.136C>T
32 papers
NM_001943.5
p.R46Q
c.137G>A
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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."