Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.P253delFs

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
3 papers
NM_032961.3
p.P253delFs
c.758_759delCC
Surrounding Variants
1 paper
NM_032961.3
p.P253R
c.758C>G
1 paper
NM_032961.3
p.V257L
c.769G>C
1 paper
NM_032961.3
p.N246I
c.737A>T
1 paper
NM_032961.3
p.P264L
c.791C>T
1 paper
NM_032961.3
p.P265T
c.793C>A
1 paper
NM_032961.3
p.L268H
c.803T>A
1 paper
NM_032961.3
p.A234T
c.700G>A
1 paper
NM_032961.3
p.L272V
c.814C>G
1 paper
NM_032961.3
p.G232V
c.695G>T
1 paper
NM_032961.3
p.N273N
c.819C>T
1 paper
NM_032961.3
p.P225S
c.673C>T
1 paper
NM_032961.3
p.L224R
c.671T>G
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