Gene Variant Detail

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Gene TSC1
Variant S561fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 S561fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 561 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). S561fs has not been characterized however, due to the effects of other truncation mutations downstream of S561 (PMID: 11875047, PMID: 20547222), is predicted to lead to a loss of Tsc1 protein function.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 S561fs

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Transcript NM_000368.5
gDNA chr9:g.(132905897_132905898)
cDNA c.(1681_1680)
Protein p.S561fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000368.5 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132905897_132905898) c.(1681_1680) p.S561fs RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.(132903815_132903816) c.(1681_1680) p.S561fs 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
TSC1 S561fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
FGFR3 S249C TSC1 S561fs
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726Q TSC1 S561fs
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726K TSC1 S561fs