Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.T371fs

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
3 papers
NM_001943.5
p.T371fs
c.1111_1112fs
Surrounding Variants
1 paper
NM_001943.5
p.P370insFs
c.1110dupT
1 paper
NM_001943.5
p.K369K
c.1107G>A
2 papers
NM_001943.5
p.P370insFs
c.1109dupC
1 paper
NM_001943.5
p.K369E
c.1105A>G
1 paper
NM_001943.5
p.K367R
c.1100A>G
1 paper
NM_001943.5
p.R365S
c.1095G>C
1 paper
NM_001943.5
p.R365S
c.1095G>T
1 paper
NM_001943.5
p.R365G
c.1093A>G
5 papers
NM_001943.5
p.S363*
c.1088C>A
1 paper
NM_001943.5
p.S363L
c.1088C>T
4 papers
NM_001943.5
p.V379V
c.1137G>A
1 paper
NM_001943.5
p.H361R
c.1082A>G
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