Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.R191R

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.R191R
c.573A>T
Surrounding Variants
1 paper
NM_032961.3
p.Q194delFs
c.580delC
1 paper
NM_032961.3
p.Q194fs
c.580_581fs
1 paper
NM_032961.3
p.A195T
c.583G>A
1 paper
NM_032961.3
p.H197N
c.589C>A
1 paper
NM_032961.3
p.R198S
c.592C>A
1 paper
NM_032961.3
p.Y199_V200del2
c.595_599del6
1 paper
NM_032961.3
p.Y199_V200del1
c.596_598delACG
1 paper
NM_032961.3
p.V200M
c.598G>A
1 paper
NM_032961.3
p.L201M
c.601C>A
1 paper
NM_032961.3
p.L201L
c.601C>T
1 paper
NM_032961.3
p.E182K
c.544G>A
1 paper
NM_032961.3
p.N178D
c.532A>G
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