Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.N287S

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.N287S
c.860A>G
Surrounding Variants
2 papers
NM_001943.5
p.N287K
c.861C>A
2 papers
NM_001943.5
p.N287K
c.861C>G
4 papers
NM_001943.5
p.N287N
c.861C>T
1 paper
NM_001943.5
p.V286V
c.858C>T
4 papers
NM_001943.5
p.V288I
c.862G>A
1 paper
NM_001943.5
p.Q285P
c.854A>C
1 paper
NM_001943.5
p.N284fs
c.850_851fs
1 paper
NM_001943.5
p.N284fs
c.850_851fs
1 paper
NM_001943.5
p.T291insFs
c.871dupA
5 papers
NM_001943.5
p.N284_Q285delFs
c.852_855del4
1 paper
NM_001943.5
p.T291fs
c.871_872fs
1 paper
NM_001943.5
p.E283K
c.847G>A
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