Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.S815R

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.S815R
c.2445T>A
Surrounding Variants
1 paper
NM_001943.5
p.S815R
c.2445T>G
1 paper
NM_001943.5
p.S815R
c.2443A>C
2 papers
NM_001943.5
p.C814R
c.2440T>C
4 papers
NM_001943.5
p.C813R
c.2437T>C
1 paper
NM_001943.5
p.C813_C814insTT
c.2437_2441ins6
11 papers
NM_001943.5
p.G812S
c.2434G>A
1 paper
NM_001943.5
p.G812_C813insC
c.2434_2438ins3
10 papers
NM_001943.5
p.G812C
c.2434G>T
1 paper
NM_001943.5
p.I811T
c.2432T>C
1 paper
NM_001943.5
p.A809delFs
c.2426_2427delCT
1 paper
NM_001943.5
p.R824G
c.2470C>G
7 papers
NM_001943.5
p.R824C
c.2470C>T
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