Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.V485L

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.V485L
c.1453G>C
Surrounding Variants
1 paper
NM_001944.3
p.V485L
c.1453G>T
1 paper
NM_001944.3
p.T480M
c.1439C>T
1 paper
NM_001944.3
p.L497F
c.1489C>T
2 papers
NM_001944.3
p.V509M
c.1525G>A
2 papers
NM_001944.3
p.V509G
c.1526T>G
1 paper
NM_001944.3
p.R514K
c.1541G>A
1 paper
NM_001944.3
p.V538I
c.1612G>A
1 paper
NM_001944.3
p.T543delFs
c.1627delA
1 paper
NM_001944.3
p.E471V
c.1412A>T
1 paper
NM_001944.3
p.R452Q
c.1355G>A
1 paper
NM_001944.3
p.I444M
c.1332C>G
1 paper
NM_001944.3
p.I437V
c.1309A>G
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