Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E156fs

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.E156fs
c.466_467fs
Surrounding Variants
2 papers
NM_001943.5
p.E156K
c.466G>A
1 paper
NM_001943.5
p.E156fs
c.466_467fs
2 papers
NM_001943.5
p.N155insFs
c.464_465insT
7 papers
NM_001943.5
p.D154E
c.462C>A
7 papers
NM_001943.5
p.D154E
c.462C>G
2 papers
NM_001943.5
p.P157L
c.470C>T
28 papers
NM_001943.5
p.V158G
c.473T>G
2 papers
NM_001943.5
p.N153S
c.458A>G
3 papers
NM_001943.5
p.D162delFs
c.484delG
1 paper
NM_001943.5
p.D162fs
c.484_485fs
1 paper
NM_001943.5
p.D162delFs
c.485delA
2 papers
NM_001943.5
p.D162fs
c.484_485fs
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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."