Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.I962M

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
1 paper
NM_001943.5
p.I962M
c.2886T>G
Surrounding Variants
1 paper
NM_001943.5
p.E965_R966delFs
c.2894_2897del4
1 paper
NM_001943.5
p.S960R
c.2880C>A
1 paper
NM_001943.5
p.S960R
c.2880C>G
1 paper
NM_001943.5
p.E965fs
c.2893_2894fs
1 paper
NM_001943.5
p.S960R
c.2878A>C
1 paper
NM_001943.5
p.Q959*
c.2875C>T
1 paper
NM_001943.5
p.A969_L974del6
c.2905_2921del18
5 papers
NM_001943.5
p.A969V
c.2906C>T
1 paper
NM_001943.5
p.L953delFs
c.2857delC
1 paper
NM_001943.5
p.T950insFs
c.2850dupT
1 paper
NM_001943.5
p.V975fs
c.2923_2924fs
2 papers
NM_001943.5
p.E982K
c.2944G>A
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