Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.D126Y

PCDH10

147 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail...

Pfam Domains

Cadherin_2aa 19–101UCSCCadherin-like
Cadherinaa 255–349UCSCCadherin domain
Cadherinaa 364–454UCSCCadherin domain
Cadherinaa 468–565UCSCCadherin domain
Cadherinaa 589–679UCSCCadherin domain
Cadherin_C_2aa 713–838UCSCCadherin cytoplasmic C-terminal

Gene Aliases

HGNC Name

protocadherin 10

HGNC Alias Symbols

OL-PCDH; KIAA1400

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032961.3
p.D126Y
c.376G>T
Surrounding Variants
1 paper
NM_032961.3
p.P125T
c.373C>A
1 paper
NM_032961.3
p.P120_S121insFs
c.360_361ins4
1 paper
NM_032961.3
p.P120fs
c.358_359fs
1 paper
NM_032961.3
p.S132C
c.395C>G
1 paper
NM_032961.3
p.P120delFs
c.360delC
1 paper
NM_032961.3
p.N118_P120delFs
c.354_360del7
1 paper
NM_032961.3
p.S134_A135del2
c.400_404del6
2 papers
NM_032961.3
p.N118fs
c.352_353fs
1 paper
NM_032961.3
p.D117E
c.351C>A
1 paper
NM_032961.3
p.D117E
c.351C>G
1 paper
NM_032961.3
p.N118del1
c.352_354delAAC
1 paper
NM_032961.3
p.N116_D117delFs
c.348_349delTG
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