Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.D162fs

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
2 papers
NM_001943.5
p.D162fs
c.484_485fs
Surrounding Variants
1 paper
NM_001943.5
p.D162fs
c.484_485fs
1 paper
NM_001943.5
p.D162delFs
c.485delA
1 paper
NM_001943.5
p.D162_V163insFs
c.486_487ins7
3 papers
NM_001943.5
p.D162delFs
c.484delG
2 papers
NM_001943.5
p.V163V
c.489C>A
4 papers
NM_001943.5
p.V165insFs
c.495dupT
28 papers
NM_001943.5
p.V158G
c.473T>G
1 paper
NM_001943.5
p.G166fs
c.496_497fs
3 papers
NM_001943.5
p.G166fs
c.496_497fs
1 paper
NM_001943.5
p.S167_V168delFs
c.499_502del4
2 papers
NM_001943.5
p.P157L
c.470C>T
1 paper
NM_001943.5
p.S167S
c.501T>A
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