Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.A55P

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
2 papers
NM_001944.3
p.A55P
c.163G>C
Surrounding Variants
2 papers
NM_001944.3
p.K53T
c.158A>C
1 paper
NM_001944.3
p.C58*
c.174C>A
1 paper
NM_001944.3
p.R45K
c.134G>A
1 paper
NM_001944.3
p.R26*
c.76C>T
1 paper
NM_001944.3
p.G23E
c.68G>A
1 paper
NM_001944.3
p.A79G
c.236C>G
1 paper
NM_001944.3
p.R86delFs
c.258delA
1 paper
NM_001944.3
p.V90fs
c.268_269fs
1 paper
NM_001944.3
p.I92I
c.276C>T
1 paper
NM_001944.3
p.D103N
c.307G>A
1 paper
NM_001944.3
p.D116N
c.346G>A
1 paper
NM_001944.3
p.L143I
c.427C>A
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