Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Q895R

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.Q895R
c.2684A>G
Surrounding Variants
2 papers
NM_001943.5
p.E896K
c.2686G>A
2 papers
NM_001943.5
p.E896fs
c.2686_2687fs
2 papers
NM_001943.5
p.E896_A897insFs
c.2688_2689insGA
2 papers
NM_001943.5
p.L894W
c.2681T>G
1 paper
NM_001943.5
p.N898T
c.2693A>C
1 paper
NM_001943.5
p.E900Q
c.2698G>C
1 paper
NM_001943.5
p.P889L
c.2666C>T
1 paper
NM_001943.5
p.T903I
c.2708C>T
1 paper
NM_001943.5
p.E905ins1
c.2714_2715insAAT
1 paper
NM_001943.5
p.G885_S886del2
c.2653_2657del6
2 papers
NM_001943.5
p.S883F
c.2648C>T
3 papers
NM_001943.5
p.S883P
c.2647T>C
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