Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.S351fs

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
2 papers
NM_001943.5
p.S351fs
c.1051_1052fs
Surrounding Variants
1 paper
NM_001943.5
p.S351insFs
c.1051_1052insC
1 paper
NM_001943.5
p.S351R
c.1051A>C
3 papers
NM_001943.5
p.S351G
c.1051A>G
1 paper
NM_001943.5
p.S351_V352insFs
c.1053_1056dup4
1 paper
NM_001943.5
p.S351R
c.1053T>A
1 paper
NM_001943.5
p.S351R
c.1053T>G
1 paper
NM_001943.5
p.F350insFs
c.1050dupC
1 paper
NM_001943.5
p.I353fs
c.1057_1058fs
1 paper
NM_001943.5
p.D349N
c.1045G>A
1 paper
NM_001943.5
p.A355T
c.1063G>A
3 papers
NM_001943.5
p.A355insFs
c.1064_1065insT
10 papers
NM_001943.5
p.K346del1
c.1036_1037delAAG
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