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Table 5 Function of mutation-damaged genes

From: Genome instability in blood cells of a BRCA1 + breast cancer family

Genes Function Mutation type
ABLIM2 Actin binding nonsynonymous SNV
BPTF Transcriptional regulation nonsynonymous SNV
CACNB3 Calcium channel nonsynonymous SNV
CHCHD1 Nuclear protein nonsynonymous SNV
CLCN4 Chloride channel nonsynonymous SNV
CUL4B Polyubiquitination stop gain
FOXP1 Transcriptional regulation nonsynonymous SNV
GSTK1 Cellular detoxification nonsynonymous SNV
ITGA1 Cell-cell adhesion nonsynonymous SNV
KCTD8 Potassium channel nonsynonymous SNV
LACRT Lacrimal gland development nonsynonymous SNV
LAT TCR - and pre-TCR-mediated signaling nonsynonymous SNV
PAMR1 Muscle regeneration nonsynonymous SNV
PHKG2 Phosphorylase kinase for glycogenesis nonsynonymous SNV
SEMA3C Developmental regulation nonsynonymous SNV
SRA1 Nuclear and non-nuclear receptor Regulation nonsynonymous SNV
TBC1D22B Unknown nonsynonymous SNV
TMPRSS7 Serine protease for peptide hydrolyzes nonsynonymous SNV
TTN Structural protein for chromosomes stop gain
UEVLD Unknown nonsynonymous SNV
ZNF24 Transcriptional regulation nonsynonymous SNV
ZNF304 Transcriptional regulation nonsynonymous SNV
ZNF674 Transcriptional regulation nonsynonymous SNV