Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.D494A

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
12 papers
NM_001943.5
p.D494A
c.1481A>C
Surrounding Variants
2 papers
NM_001943.5
p.D494N
c.1480G>A
1 paper
NM_001943.5
p.N493S
c.1478A>G
1 paper
NM_001943.5
p.I492V
c.1474A>G
1 paper
NM_001943.5
p.P497T
c.1489C>A
1 paper
NM_001943.5
p.P497S
c.1489C>T
1 paper
NM_001943.5
p.P497P
c.1491C>A
3 papers
NM_001943.5
p.D491insFs
c.1472_1473insA
1 paper
NM_001943.5
p.L499_P502delFs
c.1495_1504del10
1 paper
NM_001943.5
p.L499_P502del4
c.1495_1505del12
1 paper
NM_001943.5
p.E490K
c.1468G>A
3 papers
NM_001943.5
p.L499Q
c.1496T>A
1 paper
NM_001943.5
p.L499R
c.1496T>G
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