Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.G830_L831insFs

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.G830_L831insFs
c.2490_2491insT
Surrounding Variants
5 papers
NM_001943.5
p.L831F
c.2491C>T
1 paper
NM_001943.5
p.G830R
c.2488G>C
2 papers
NM_001943.5
p.L829_C840del12
c.2485_2519del36
1 paper
NM_001943.5
p.F833I
c.2497T>A
1 paper
NM_001943.5
p.D828_G830delFs
c.2483_2489del7
1 paper
NM_001943.5
p.L826S
c.2477T>C
4 papers
NM_001943.5
p.T835T
c.2505A>G
1 paper
NM_001943.5
p.A837delFs
c.2509delG
1 paper
NM_001943.5
p.R824G
c.2470C>G
7 papers
NM_001943.5
p.R824C
c.2470C>T
2 papers
NM_001943.5
p.C840F
c.2519G>T
1 paper
NM_001943.5
p.I845delFs
c.2533delA
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