Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.P528delFs

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.P528delFs
c.1582delC
Surrounding Variants
4 papers
NM_001943.5
p.S530insFs
c.1588_1589insC
44 papers
NM_001943.5
p.F531C
c.1592T>G
1 paper
NM_001943.5
p.S532_I534del3
c.1594_1601del9
1 paper
NM_001943.5
p.S532S
c.1596C>T
1 paper
NM_001943.5
p.G522R
c.1564G>A
3 papers
NM_001943.5
p.V533I
c.1597G>A
3 papers
NM_001943.5
p.D521G
c.1562A>G
1 paper
NM_001943.5
p.V533A
c.1598T>C
1 paper
NM_001943.5
p.D535E
c.1605C>A
1 paper
NM_001943.5
p.D535E
c.1605C>G
5 papers
NM_001943.5
p.A517V
c.1550C>T
3 papers
NM_001943.5
p.V515I
c.1543G>A
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