Varaico: Literature-Extracted Genetic Variants

Gene:DSG2

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
1–12 of 815 variants
48 papers
NM_001943.5
p.T335A
c.1003A>G
44 papers
NM_001943.5
p.F531C
c.1592T>G
36 papers
NM_001943.5
p.N266S
c.797A>G
33 papers
NM_001943.5
p.R49H
c.146G>A
32 papers
NM_001943.5
p.R46Q
c.137G>A
32 papers
NM_001943.5
p.V56M
c.166G>A
30 papers
NM_001943.5
p.V392I
c.1174G>A
28 papers
NM_001943.5
p.V158G
c.473T>G
24 papers
NM_001943.5
p.Q558*
c.1672C>T
23 papers
NM_001943.5
p.R773K
c.2318G>A
23 papers
NM_001943.5
p.V920G
c.2759T>G
22 papers
NM_001943.5
p.I293V
c.877A>G
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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."