Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.N118del1

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
1 paper
NM_032961.3
p.N118del1
c.352_354delAAC
Surrounding Variants
1 paper
NM_032961.3
p.N116_D117delFs
c.348_349delTG
1 paper
NM_032961.3
p.D117E
c.351C>A
1 paper
NM_032961.3
p.D117E
c.351C>G
2 papers
NM_032961.3
p.N118fs
c.352_353fs
1 paper
NM_032961.3
p.N116fs
c.346_347fs
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.D114insFs
c.341_342insT
1 paper
NM_032961.3
p.P120fs
c.358_359fs
1 paper
NM_032961.3
p.D114fs
c.340_341fs
1 paper
NM_032961.3
p.D114Y
c.340G>T
1 paper
NM_032961.3
p.P120_S121insFs
c.360_361ins4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."