Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.S939delFs

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.S939delFs
c.2817delC
Surrounding Variants
1 paper
NM_001943.5
p.T938N
c.2813C>A
1 paper
NM_001943.5
p.Y940fs
c.2818_2819fs
1 paper
NM_001943.5
p.T942I
c.2825C>T
1 paper
NM_001943.5
p.V933M
c.2797G>A
1 paper
NM_001943.5
p.T950insFs
c.2850dupT
8 papers
NM_001943.5
p.P927L
c.2780C>T
1 paper
NM_001943.5
p.D926Y
c.2776G>T
1 paper
NM_001943.5
p.L953delFs
c.2857delC
6 papers
NM_001943.5
p.P925S
c.2773C>T
1 paper
NM_001943.5
p.L924F
c.2770C>T
1 paper
NM_001943.5
p.T922fs
c.2764_2765fs
1 paper
NM_001943.5
p.T922delFs
c.2765_2766delCA
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