Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.Y483D

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.Y483D
c.1447T>G
Surrounding Variants
2 papers
NM_032961.3
p.A484V
c.1451C>T
2 papers
NM_032961.3
p.R490W
c.1468C>T
1 paper
NM_032961.3
p.R490L
c.1469G>T
1 paper
NM_032961.3
p.T473S
c.1418C>G
1 paper
NM_032961.3
p.T473S
c.1417A>T
1 paper
NM_032961.3
p.G493D
c.1478G>A
1 paper
NM_032961.3
p.D469A
c.1406A>C
1 paper
NM_032961.3
p.P466P
c.1398G>A
1 paper
NM_032961.3
p.S464C
c.1390A>T
1 paper
NM_032961.3
p.A460V
c.1379C>T
3 papers
NM_032961.3
p.G509D
c.1526G>A
1 paper
NM_032961.3
p.S511R
c.1531A>C
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