Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E317K

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.E317K
c.949G>A
Surrounding Variants
1 paper
NM_001943.5
p.G318*
c.952G>T
3 papers
NM_001943.5
p.S314*
c.941C>A
3 papers
NM_001943.5
p.S314*
c.941C>G
6 papers
NM_001943.5
p.F321I
c.961T>A
1 paper
NM_001943.5
p.A313_G315delFs
c.938_944del7
1 paper
NM_001943.5
p.I323_T325del0
c.969_974del6
2 papers
NM_001943.5
p.T325A
c.973A>G
3 papers
NM_001943.5
p.D326N
c.976G>A
3 papers
NM_001943.5
p.D326V
c.977A>T
13 papers
NM_001943.5
p.W306*
c.918G>A
12 papers
NM_001943.5
p.W306*
c.917G>A
1 paper
NM_001943.5
p.W306delFs
c.917_918delGG
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