Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.I70V

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.I70V
c.208A>G
Surrounding Variants
2 papers
NM_001943.5
p.K72_I73insFs
c.216_217insG
1 paper
NM_001943.5
p.K72M
c.215A>T
2 papers
NM_001943.5
p.K72N
c.216G>C
2 papers
NM_001943.5
p.K72N
c.216G>T
1 paper
NM_001943.5
p.K72_I73Splc
c.216+1G>T
1 paper
NM_001943.5
p.L64P
c.191T>C
2 papers
NM_001943.5
p.L64L
c.190C>T
1 paper
NM_001943.5
p.D63fs
c.187_188fs
1 paper
NM_001943.5
p.E62delFs
c.186delG
1 paper
NM_001943.5
p.E60E
c.180G>A
1 paper
NM_001943.5
p.E60D
c.180G>C
1 paper
NM_001943.5
p.E60D
c.180G>T
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