Gene Variant Detail

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Gene TSC2
Variant D514Pfs*74
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 D514Pfs*74 indicates a shift in the reading frame starting at amino acid 514 and terminating 74 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). D514Pfs*74 has not been characterized however, due to the effects of other truncation mutations downstream of D514 (PMID: 22903760, PMID: 31454656), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 D514Pfs*74

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Transcript NM_000548.5
gDNA chr16:g.2064368_2064369delGA
cDNA c.1540_1541delGA
Protein p.D514Pfs*74
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406665.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2064368_2064369delGA c.1540_1541delGA p.D514Pfs*74 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References