Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.I437V

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.I437V
c.1309A>G
Surrounding Variants
1 paper
NM_001944.3
p.I444M
c.1332C>G
1 paper
NM_001944.3
p.R452Q
c.1355G>A
1 paper
NM_001944.3
p.E471V
c.1412A>T
1 paper
NM_001944.3
p.V423F
c.1267G>T
1 paper
NM_001944.3
p.S397delFs
c.1189delA
1 paper
NM_001944.3
p.R384C
c.1150C>T
1 paper
NM_001944.3
p.I360insFs
c.1079_1080insC
1 paper
NM_001944.3
p.T480M
c.1439C>T
1 paper
NM_001944.3
p.V485L
c.1453G>C
1 paper
NM_001944.3
p.V485L
c.1453G>T
1 paper
NM_001944.3
p.Q339E
c.1015C>G
1 paper
NM_001944.3
p.L497F
c.1489C>T
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