Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.T1112S

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.T1112S
c.3334A>T
Surrounding Variants
1 paper
NM_001943.5
p.T1112S
c.3335C>G
2 papers
NM_001943.5
p.Q1114*
c.3340C>T
1 paper
NM_001943.5
p.Q1114H
c.3342G>C
1 paper
NM_001943.5
p.Q1114H
c.3342G>T
5 papers
NM_001943.5
p.V1107V
c.3321T>C
1 paper
NM_001943.5
p.R1106fs
c.3316_3317fs
1 paper
NM_001943.5
p.S1118T
c.3352T>A
1 paper
NM_001943.5
p.S1118F
c.3353C>T
1 paper
NM_001943.5
p.R1106delFs
c.3316delA
1 paper
NM_001943.5
p.T1102P
c.3304A>C
1 paper
NM_001943.5
p.T1101I
c.3302C>T
3 papers
NM_001943.5
p.T1099A
c.3295A>G
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