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Gene PIK3CA
Variant S332_L334del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PIK3CA S332_L334del results in the deletion of three amino acids in the Pik3ca protein from amino acids 332 to 334 (UniProt.org). S332_L334del results in decreased transformation ability in two different cell lines compared to wild-type Pik3ca (PMID: 29533785), and therefore, is predicted to lead to a loss of Pik3ca protein function.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA exon5 PIK3CA S332_L334del

PIK3CA mutant PIK3CA inact mut PIK3CA S332_L334del

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Transcript NM_006218.4
gDNA chr3:g.179203726_179203734delTGCACTCAG
cDNA c.996_1004delTGCACTCAG
Protein p.S332_L334delSAL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.4 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
NM_006218 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
XM_011512894 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
XM_006713658 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179203726_179203734delTGCACTCAG c.996_1004delTGCACTCAG p.S332_L334delSAL RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References