Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.K294_V295insFs

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
4 papers
NM_001943.5
p.K294_V295insFs
c.882_883insA
Surrounding Variants
2 papers
NM_001943.5
p.I293L
c.877A>C
22 papers
NM_001943.5
p.I293V
c.877A>G
2 papers
NM_001943.5
p.I293L
c.877A>T
17 papers
NM_001943.5
p.K294E
c.880A>G
3 papers
NM_001943.5
p.R292H
c.875G>A
1 paper
NM_001943.5
p.V295_F296delFs
c.885_886delGT
20 papers
NM_001943.5
p.R292C
c.874C>T
3 papers
NM_001943.5
p.V295fs
c.883_884fs
1 paper
NM_001943.5
p.T291fs
c.871_872fs
1 paper
NM_001943.5
p.T291insFs
c.871dupA
1 paper
NM_001943.5
p.F296_D297insA
c.886_890ins3
6 papers
NM_001943.5
p.D297N
c.889G>A
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