Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.D402N

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.D402N
c.1204G>A
Surrounding Variants
2 papers
NM_001943.5
p.M401I
c.1203G>T
1 paper
NM_001943.5
p.S404insFs
c.1211dupC
1 paper
NM_001943.5
p.S404insFs
c.1211_1212insT
1 paper
NM_001943.5
p.S405C
c.1213A>T
1 paper
NM_001943.5
p.E399K
c.1195G>A
1 paper
NM_001943.5
p.G407S
c.1219G>A
1 paper
NM_001943.5
p.I409T
c.1226T>C
1 paper
NM_001943.5
p.V392D
c.1175T>A
30 papers
NM_001943.5
p.V392I
c.1174G>A
1 paper
NM_001943.5
p.S391R
c.1173C>A
1 paper
NM_001943.5
p.S391R
c.1173C>G
1 paper
NM_001943.5
p.S391R
c.1171A>C
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