Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.H563Y

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.H563Y
c.1687C>T
Surrounding Variants
1 paper
NM_001944.3
p.P558T
c.1672C>A
1 paper
NM_001944.3
p.N574N
c.1722T>C
2 papers
NM_001944.3
p.R575W
c.1723C>T
1 paper
NM_001944.3
p.S548L
c.1643C>T
1 paper
NM_001944.3
p.A546Splc
c.1637-35T>C
1 paper
NM_001944.3
p.P604S
c.1810C>T
1 paper
NM_001944.3
p.G605R
c.1813G>A
1 paper
NM_001944.3
p.G605R
c.1813G>C
1 paper
NM_001944.3
p.P611A
c.1831C>G
1 paper
NM_001944.3
p.T543delFs
c.1627delA
1 paper
NM_001944.3
p.V538I
c.1612G>A
1 paper
NM_001944.3
p.R514K
c.1541G>A
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