Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene TSC1
Variant M194Afs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 M194Afs*13 indicates a shift in the reading frame starting at amino acid 194 and terminating 13 residues downstream causing a premature truncation of the 1164 amino acid Tsc1 protein (UniProt.org). M194Afs*13 has not been characterized however, due to the effects of other truncation mutations downstream of M194 (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 M194Afs*13

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.

Transcript NM_000368.5
gDNA chr9:g.(132921861_132921902)
cDNA c.(580_621)
Protein p.M194Afs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015098.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_000368.5 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.(132921861_132921902) c.(580_621) p.M194Afs*13 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 M194Afs*13 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor