Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.R773K

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
23 papers
NM_001943.5
p.R773K
c.2318G>A
Surrounding Variants
1 paper
NM_001943.5
p.N774S
c.2321A>G
5 papers
NM_001943.5
p.L772*
c.2315T>A
5 papers
NM_001943.5
p.L772*
c.2315T>G
1 paper
NM_001943.5
p.F776L
c.2326T>C
1 paper
NM_001943.5
p.F776L
c.2328C>A
1 paper
NM_001943.5
p.F776L
c.2328C>G
2 papers
NM_001943.5
p.E769K
c.2305G>A
1 paper
NM_001943.5
p.N768N
c.2304C>T
1 paper
NM_001943.5
p.D778Y
c.2332G>T
1 paper
NM_001943.5
p.D778_K779Splc
c.2334+1G>A
2 papers
NM_001943.5
p.A763S
c.2287G>T
1 paper
NM_001943.5
p.M757T
c.2270T>C
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