Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.E109*

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.E109*
c.325G>T
Surrounding Variants
1 paper
NM_032961.3
p.V108M
c.322G>A
1 paper
NM_032961.3
p.V108L
c.322G>C
1 paper
NM_032961.3
p.V108L
c.322G>T
1 paper
NM_032961.3
p.Q107R
c.320A>G
1 paper
NM_032961.3
p.E111V
c.332A>T
1 paper
NM_032961.3
p.F106I
c.316T>A
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.D114insFs
c.341_342insT
1 paper
NM_032961.3
p.N116fs
c.346_347fs
1 paper
NM_032961.3
p.N116_D117delFs
c.348_349delTG
1 paper
NM_032961.3
p.N118del1
c.352_354delAAC
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