Gene Variant Detail

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Gene TSC2
Variant Q200fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 Q200fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 200 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). Q200fs has not been characterized however, due to the effects of other truncation mutations downstream of Q200 (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 Q200fs

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Transcript NM_000548.5
gDNA chr16:g.(2055517_2055518)
cDNA c.(598_597)
Protein p.Q200fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023615.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_021055.3 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001406681.1 chr16:g.(2060753_2060754) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.(2055517_2055518) c.(598_597) p.Q200fs RefSeq GRCh38/hg38

Filtering

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  • 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

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries