Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.G279A

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.G279A
c.836G>C
Surrounding Variants
1 paper
NM_001943.5
p.M280V
c.838A>G
1 paper
NM_001943.5
p.G279delFs
c.835delG
1 paper
NM_001943.5
p.E278V
c.833A>T
2 papers
NM_001943.5
p.E278K
c.832G>A
2 papers
NM_001943.5
p.L277fs
c.829_830fs
3 papers
NM_001943.5
p.L277_M280del0
c.829_840del12
1 paper
NM_001943.5
p.V276_L277Splc
c.829-3C>A
1 paper
NM_001943.5
p.E283K
c.847G>A
5 papers
NM_001943.5
p.N284_Q285delFs
c.852_855del4
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.Q285P
c.854A>C
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