Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.W301L

DSG3

129 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 56–148UCSCCadherin domain
Cadherinaa 162–258UCSCCadherin domain
Cadherinaa 272–375UCSCCadherin domain

Gene Aliases

HGNC Name

desmoglein 3

HGNC Alias Symbol

CDHF6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001944.3
p.W301L
c.902G>T
Surrounding Variants
1 paper
NM_001944.3
p.S309delFs
c.926delC
1 paper
NM_001944.3
p.G310E
c.929G>A
1 paper
NM_001944.3
p.R287Q
c.860G>A
3 papers
NM_001944.3
p.R287*
c.859C>T
1 paper
NM_001944.3
p.I318K
c.953T>A
1 paper
NM_001944.3
p.R323_N325del0
c.969_974del6
1 paper
NM_001944.3
p.D241E
c.723C>A
1 paper
NM_001944.3
p.D241E
c.723C>G
1 paper
NM_001944.3
p.G239C
c.715G>T
1 paper
NM_001944.3
p.T220N
c.659C>A
1 paper
NM_001944.3
p.R219L
c.656G>T
1 paper
NM_001944.3
p.E186K
c.556G>A
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