Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E1018G

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.E1018G
c.3053A>G
Surrounding Variants
5 papers
NM_001943.5
p.S1021delFs
c.3061_3062delAG
18 papers
NM_001943.5
p.E1020_S1021delFs
c.3059_3062del4
4 papers
NM_001943.5
p.E1020fs
c.3058_3059fs
13 papers
NM_001943.5
p.E1020fs
c.3058_3059fs
3 papers
NM_001943.5
p.E1020A
c.3059A>C
1 paper
NM_001943.5
p.S1021fs
c.3061_3062fs
2 papers
NM_001943.5
p.S1021fs
c.3061_3062fs
1 paper
NM_001943.5
p.M1015I
c.3045G>A
1 paper
NM_001943.5
p.M1015I
c.3045G>C
1 paper
NM_001943.5
p.M1015I
c.3045G>T
1 paper
NM_001943.5
p.M1015delFs
c.3045delG
9 papers
NM_001943.5
p.V1014I
c.3040G>A
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