Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Q801*

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.Q801*
c.2401C>T
Surrounding Variants
1 paper
NM_001943.5
p.Y799*
c.2397T>A
1 paper
NM_001943.5
p.Y799*
c.2397T>G
2 papers
NM_001943.5
p.T804delFs
c.2410delA
2 papers
NM_001943.5
p.T804fs
c.2410_2411fs
2 papers
NM_001943.5
p.L797Q
c.2390T>A
1 paper
NM_001943.5
p.E805K
c.2413G>A
1 paper
NM_001943.5
p.S806_N808insFs
c.2418_2422dup5
2 papers
NM_001943.5
p.L796insFs
c.2386_2387insC
1 paper
NM_001943.5
p.L796delFs
c.2386delC
1 paper
NM_001943.5
p.A809delFs
c.2426_2427delCT
1 paper
NM_001943.5
p.T791fs
c.2371_2372fs
1 paper
NM_001943.5
p.I811T
c.2432T>C
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