Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.G878S

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.G878S
c.2632G>A
Surrounding Variants
1 paper
NM_001944.3
p.G878A
c.2633G>C
1 paper
NM_001944.3
p.S874C
c.2621C>G
1 paper
NM_001944.3
p.K868I
c.2603A>T
1 paper
NM_001944.3
p.V890_Q892delFs
c.2669_2676del8
1 paper
NM_001944.3
p.V890D
c.2669T>A
2 papers
NM_001944.3
p.Q891K
c.2671C>A
3 papers
NM_001944.3
p.Q891R
c.2672A>G
1 paper
NM_001944.3
p.L856R
c.2567T>G
1 paper
NM_001944.3
p.L856fs
c.2566_2567fs
2 papers
NM_001944.3
p.K854*
c.2560A>T
1 paper
NM_001944.3
p.K855insFs
c.2565dupA
1 paper
NM_001944.3
p.K854Fs
c.2560delinsTAFs
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