Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.D103N

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.D103N
c.307G>A
Surrounding Variants
1 paper
NM_001944.3
p.I92I
c.276C>T
1 paper
NM_001944.3
p.D116N
c.346G>A
1 paper
NM_001944.3
p.V90fs
c.268_269fs
1 paper
NM_001944.3
p.R86delFs
c.258delA
1 paper
NM_001944.3
p.A79G
c.236C>G
1 paper
NM_001944.3
p.L143I
c.427C>A
1 paper
NM_001944.3
p.E167K
c.499G>A
1 paper
NM_001944.3
p.E186K
c.556G>A
1 paper
NM_001944.3
p.R219L
c.656G>T
1 paper
NM_001944.3
p.T220N
c.659C>A
1 paper
NM_001944.3
p.C58*
c.174C>A
2 papers
NM_001944.3
p.A55P
c.163G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."