Gene Variant Detail

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Gene PIK3CA
Variant H1047Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA H1047Q is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047Q has been identified in sequencing studies (PMID: 31158500, PMID: 30547809, PMID: 35880223), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2022).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047Q

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Transcript NM_006218.3
gDNA chr3:g.179234298T>A
cDNA c.3141T>A
Protein p.H1047Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894.2 chr3:g.179234298T>A c.3141T>A p.H1047Q RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234298T>A c.3141T>A p.H1047Q RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234298T>A c.3141T>A p.H1047Q RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234298T>A c.3141T>A p.H1047Q RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234298T>A c.3141T>A p.H1047Q RefSeq GRCh38/hg38
NM_006218 chr3:g.179234298T>A c.3141T>A p.H1047Q RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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