Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Q993H

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.Q993H
c.2979G>T
Surrounding Variants
1 paper
NM_001943.5
p.Q993H
c.2979G>C
3 papers
NM_001943.5
p.G997delFs
c.2990delG
2 papers
NM_001943.5
p.G997fs
c.2989_2990fs
1 paper
NM_001943.5
p.V987F
c.2959G>T
2 papers
NM_001943.5
p.V986fs
c.2956_2957fs
1 paper
NM_001943.5
p.V986fs
c.2956_2957fs
4 papers
NM_001943.5
p.V985delFs
c.2955delT
1 paper
NM_001943.5
p.G1004C
c.3010G>T
2 papers
NM_001943.5
p.E982K
c.2944G>A
1 paper
NM_001943.5
p.Q1009*
c.3025C>T
1 paper
NM_001943.5
p.V1011A
c.3032T>C
1 paper
NM_001943.5
p.V975fs
c.2923_2924fs
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