Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.L171W

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.L171W
c.512T>G
Surrounding Variants
1 paper
NM_001943.5
p.L171fs
c.511_512fs
1 paper
NM_001943.5
p.S172N
c.515G>A
1 paper
NM_001943.5
p.S172R
c.516T>G
1 paper
NM_001943.5
p.L171_S172delFs
c.512_516del5
2 papers
NM_001943.5
p.A173insFs
c.517_518insA
1 paper
NM_001943.5
p.A174A
c.522A>T
1 paper
NM_001943.5
p.S167S
c.501T>A
13 papers
NM_001943.5
p.H175Splc
c.523+1G>A
2 papers
NM_001943.5
p.H175Splc
c.523+1G>C
1 paper
NM_001943.5
p.H175Splc
c.523+1G>T
15 papers
NM_001943.5
p.H175Splc
c.523+2T>C
1 paper
NM_001943.5
p.S167_V168delFs
c.499_502del4
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