Varaico: Literature-Extracted Genetic Variants

Gene:PCDH10
Variant:p.G597fs

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.G597fs
c.1789_1790fs
Surrounding Variants
1 paper
NM_032961.3
p.P596_Y598del3
c.1786_1793del9
1 paper
NM_032961.3
p.R602C
c.1804C>T
1 paper
NM_032961.3
p.R602H
c.1805G>A
1 paper
NM_032961.3
p.T584A
c.1750A>G
1 paper
NM_032961.3
p.G583A
c.1748G>C
1 paper
NM_032961.3
p.E612K
c.1834G>A
1 paper
NM_032961.3
p.T617_Y618delFs
c.1849_1852del4
1 paper
NM_032961.3
p.T617fs
c.1849_1850fs
1 paper
NM_032961.3
p.I620N
c.1859T>A
1 paper
NM_032961.3
p.A573V
c.1718C>T
1 paper
NM_032961.3
p.R622R
c.1866T>C
1 paper
NM_032961.3
p.G623D
c.1868G>A
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