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 M18fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 M18fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 18 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). M18fs has not been characterized however, due to the effects of other truncation mutations downstream of M18 (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 M18fs

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.(132928821_132928822)
cDNA c.(52_51)
Protein p.M18fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406614.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001162426 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_000368 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
XM_017015101 chr9:g.132923441_132923442insTGTGGGGGGAA c.51_52insTTCCCCCCACA p.M18fs*8 RefSeq GRCh38/hg38
XM_006717271 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406623.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_005272211 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015100 chr9:g.132923441_132923442insTGTGGGGGGAA c.51_52insTTCCCCCCACA p.M18fs*8 RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015098 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001162427 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015096 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
XM_017015100.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015101.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_011518979 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015099 chr9:g.132923441_132923442insTGTGGGGGGAA c.51_52insTTCCCCCCACA p.M18fs*8 RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015097 chr9:g.132928821delT c.52delA p.M18fs*8 RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_000368.5 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.(132928821_132928822) c.(52_51) p.M18fs RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.(132923441_132923442) c.(52_51) p.M18fs 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 M18fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor