Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.L638L

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.L638L
c.1914G>C
Surrounding Variants
1 paper
NM_001944.3
p.T648A
c.1942A>G
1 paper
NM_001944.3
p.K679_E680Splc
c.2037+1G>T
1 paper
NM_001944.3
p.C685R
c.2053T>C
1 paper
NM_001944.3
p.T690P
c.2068A>C
1 paper
NM_001944.3
p.D695N
c.2083G>A
2 papers
NM_001944.3
p.E701*
c.2101G>T
1 paper
NM_001944.3
p.A728delFs
c.2184delC
1 paper
NM_001944.3
p.A734V
c.2201C>T
1 paper
NM_001944.3
p.G736S
c.2206G>A
1 paper
NM_001944.3
p.G750R
c.2248G>A
1 paper
NM_001944.3
p.G750R
c.2248G>C
1 paper
NM_001944.3
p.A752T
c.2254G>A
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