Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.V239A

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
5 papers
NM_001943.5
p.V239A
c.716T>C
Surrounding Variants
1 paper
NM_001943.5
p.V239I
c.715G>A
4 papers
NM_001943.5
p.L237*
c.710T>A
4 papers
NM_001943.5
p.T236A
c.706A>G
1 paper
NM_001943.5
p.Y235*
c.705C>A
1 paper
NM_001943.5
p.Y235*
c.705C>G
2 papers
NM_001943.5
p.Y235H
c.703T>C
1 paper
NM_001943.5
p.G246G
c.738A>C
1 paper
NM_001943.5
p.E230_E231Splc
c.691-1G>A
1 paper
NM_001943.5
p.E230_E231Splc
c.691-2A>T
1 paper
NM_001943.5
p.V253_A256del4
c.757_767del12
1 paper
NM_001943.5
p.Q255K
c.763C>A
1 paper
NM_001943.5
p.Q255*
c.763C>T
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