Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.K479E

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.K479E
c.1435A>G
Surrounding Variants
1 paper
NM_001943.5
p.K479R
c.1436A>G
2 papers
NM_001943.5
p.T480I
c.1439C>T
1 paper
NM_001943.5
p.P477L
c.1430C>T
1 paper
NM_001943.5
p.D475Splc
c.1424-1G>C
1 paper
NM_001943.5
p.G483D
c.1448G>A
1 paper
NM_001943.5
p.L486_I487ins7
c.1456_1460ins21
1 paper
NM_001943.5
p.I487T
c.1460T>C
1 paper
NM_001943.5
p.N488S
c.1463A>G
1 paper
NM_001943.5
p.N488I
c.1463A>T
3 papers
NM_001943.5
p.V489insFs
c.1465_1466insC
1 paper
NM_001943.5
p.V489insFs
c.1466_1467insC
1 paper
NM_001943.5
p.E490K
c.1468G>A
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