Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.T747T

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.T747T
c.2241C>T
Surrounding Variants
4 papers
NM_001943.5
p.A748T
c.2242G>A
2 papers
NM_001943.5
p.R749W
c.2245A>T
1 paper
NM_001943.5
p.T745M
c.2234C>T
1 paper
NM_001943.5
p.A753S
c.2257G>T
1 paper
NM_001943.5
p.I739V
c.2215A>G
1 paper
NM_001943.5
p.I739F
c.2215A>T
1 paper
NM_001943.5
p.M757T
c.2270T>C
1 paper
NM_001943.5
p.G734R
c.2200G>A
1 paper
NM_001943.5
p.G734R
c.2200G>C
1 paper
NM_001943.5
p.T733_G734Fs
c.2197_2202delinsGFs
1 paper
NM_001943.5
p.T733_G734del0
c.2197_2202del6
2 papers
NM_001943.5
p.A763S
c.2287G>T
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