TSC2 R905fs
Gene Variant Detail

Request Content

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 TSC2
Variant R905fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 R905fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 905 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). R905fs results in increased Ofd1 and p62 expression associated with decreased autophagy and reduced ciliogenesis in patient samples (PMID: 29937275), and due to the effects of other truncation mutations downstream of R905 (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 R905fs

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_000548.5
gDNA chr16:g.(2076140_2076141)
cDNA c.(2713_2712)
Protein p.R905fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001077183 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522636 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522637 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_017023615 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_021055.3 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522639 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_017023618.1 chr16:g.(2083813_2083814) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001114382 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_000548 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_005255531 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_017023616 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_005255529 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522640 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.(2076140_2076141) c.(2713_2712) p.R905fs 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries