Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E850K

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
2 papers
NM_001943.5
p.E850K
c.2548G>A
Surrounding Variants
1 paper
NM_001943.5
p.I851delFs
c.2551delA
1 paper
NM_001943.5
p.I851fs
c.2551_2552fs
1 paper
NM_001943.5
p.E852delFs
c.2554delG
4 papers
NM_001943.5
p.E852_Q855del4
c.2554_2564del12
1 paper
NM_001943.5
p.E852fs
c.2554_2555fs
2 papers
NM_001943.5
p.E852*
c.2554G>T
1 paper
NM_001943.5
p.D846N
c.2536G>A
1 paper
NM_001943.5
p.I845V
c.2533A>G
6 papers
NM_001943.5
p.K856N
c.2568A>C
5 papers
NM_001943.5
p.K856N
c.2568A>T
1 paper
NM_001943.5
p.I845delFs
c.2533delA
1 paper
NM_001943.5
p.A858V
c.2573C>T
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