Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.R1072fs

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.R1072fs
c.3214_3215fs
Surrounding Variants
1 paper
NM_001943.5
p.A1071insFs
c.3213dupT
1 paper
NM_001943.5
p.R1072S
c.3216G>C
1 paper
NM_001943.5
p.R1072S
c.3216G>T
5 papers
NM_001943.5
p.T1070M
c.3209C>T
1 paper
NM_001943.5
p.M1069V
c.3205A>G
2 papers
NM_001943.5
p.N1067D
c.3199A>G
1 paper
NM_001943.5
p.G1078R
c.3232G>A
1 paper
NM_001943.5
p.G1078R
c.3232G>C
1 paper
NM_001943.5
p.V1081F
c.3241G>T
1 paper
NM_001943.5
p.P1082A
c.3244C>G
1 paper
NM_001943.5
p.Y1061*
c.3183C>A
1 paper
NM_001943.5
p.Y1061*
c.3183C>G
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