Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.D787fs

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.D787fs
c.2359_2360fs
Surrounding Variants
4 papers
NM_001943.5
p.D787fs
c.2359_2360fs
2 papers
NM_001943.5
p.D787G
c.2360A>G
8 papers
NM_001943.5
p.E786delFs
c.2358delA
2 papers
NM_001943.5
p.H790del1
c.2368_2370delCAC
2 papers
NM_001943.5
p.H790Y
c.2368C>T
4 papers
NM_001943.5
p.Y783*
c.2349C>A
3 papers
NM_001943.5
p.Y783*
c.2349C>G
1 paper
NM_001943.5
p.T791fs
c.2371_2372fs
1 paper
NM_001943.5
p.S782fs
c.2344_2345fs
1 paper
NM_001943.5
p.A781_S782insFs
c.2343_2344ins4
1 paper
NM_001943.5
p.A780V
c.2339C>T
2 papers
NM_001943.5
p.L796insFs
c.2386_2387insC
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