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 TSC2
Variant K599M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 K599M does not lie within any known functional domains of the Tsc2 protein (UniProt.org). K599M results in chaperone function, Tsc2 phosphorylation, Tsc1 binding and subcellular localization (PMID: 11741832), S6k phosphorylation (PMID: 15483652, PMID: 21309039), and Tsc1 and Tsc2 stability similar to wild-type Tsc2 (PMID: 21309039), but results in decreased Tsc2 acetylation, reduced response to Tsc2 acetylation-induced mTORC1 activation, and decreased cell proliferation in culture (PMID: 27542907), and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 K599M

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.2070535A>T
cDNA c.1796A>T
Protein p.K599M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001370405.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2070535A>T c.1796A>T p.K599M RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2070535A>T c.1796A>T p.K599M 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