Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.W718*

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.W718*
c.2154G>A
Surrounding Variants
1 paper
NM_001943.5
p.W718*
c.2153G>A
1 paper
NM_001943.5
p.D715A
c.2144A>C
1 paper
NM_001943.5
p.D715Y
c.2143G>T
1 paper
NM_001943.5
p.M714V
c.2140A>G
16 papers
NM_001943.5
p.E713K
c.2137G>A
1 paper
NM_001943.5
p.S712S
c.2136C>T
1 paper
NM_001943.5
p.G727D
c.2180G>A
3 papers
NM_001943.5
p.Q731P
c.2192A>C
2 papers
NM_001943.5
p.F732V
c.2194T>G
1 paper
NM_001943.5
p.T733_G734Fs
c.2197_2202delinsGFs
1 paper
NM_001943.5
p.T733_G734del0
c.2197_2202del6
2 papers
NM_001943.5
p.I704V
c.2110A>G
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