Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.V56M

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
32 papers
NM_001943.5
p.V56M
c.166G>A
Surrounding Variants
1 paper
NM_001943.5
p.A57T
c.169G>A
1 paper
NM_001943.5
p.A57D
c.170C>A
1 paper
NM_001943.5
p.A57G
c.170C>G
1 paper
NM_001943.5
p.A54D
c.161C>A
1 paper
NM_001943.5
p.A54V
c.161C>T
2 papers
NM_001943.5
p.A54T
c.160G>A
1 paper
NM_001943.5
p.T53S
c.158C>G
1 paper
NM_001943.5
p.L58L
c.174T>A
1 paper
NM_001943.5
p.T53S
c.157A>T
1 paper
NM_001943.5
p.R59Q
c.176G>A
1 paper
NM_001943.5
p.I52T
c.155T>C
1 paper
NM_001943.5
p.I52S
c.155T>G
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