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 N275del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions TSC2 N275del results in the deletion of an amino acid in the TSC1-interacting region of the Tsc1 protein at amino acid 275 (UniProt.org). N275del results in the loss of repression of Mtorc1 as indicated by assays demonstrating increased phosphorylation of S6k in cultured cells (PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 N275del

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.2057154_2057156delACA
cDNA c.824_826delACA
Protein p.N275delN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406680.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2058832_2058834delCTC c.823_825delCTC p.L275delL RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2058832_2058834delCTC c.823_825delCTC p.L275delL RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2057165_2057167delCTC c.823_825delCTC p.L275delL RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2057120_2057122delCTT c.823_825delCTT p.L275delL RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2058779_2058781delGAG c.824_826delGAG p.G275delG RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2056728_2056730delCGC c.823_825delCGC p.R275delR RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2057165_2057167delCTC c.823_825delCTC p.L275delL RefSeq GRCh38/hg38
NM_001406676.1 chr16:g.2058868_2058870delTAC c.823_825delTAC p.Y275delY RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_001406681.1 chr16:g.2062524_2062526delTAT c.823_825delTAT p.Y275delY RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001318829.2 chr16:g.2058868_2058870delTAC c.823_825delTAC p.Y275delY RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2056728_2056730delCGC c.823_825delCGC p.R275delR RefSeq GRCh38/hg38
NM_001406688.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2058832_2058834delCTC c.823_825delCTC p.L275delL RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406675.1 chr16:g.2058868_2058870delTAC c.823_825delTAC p.Y275delY RefSeq GRCh38/hg38
NM_001406687.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406682.1 chr16:g.2063034_2063036delTCA c.824_826delTCA p.I275delI RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2074269_2074271delTCC c.823_825delTCC p.S275delS RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2057154_2057156delACA c.824_826delACA p.N275delN RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2058832_2058834delCTC c.823_825delCTC p.L275delL RefSeq GRCh38/hg38
NM_001406679.1 chr16:g.2058868_2058870delTAC c.823_825delTAC p.Y275delY RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2072310_2072312delATC c.823_825delATC p.I275delI 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
TSC2 N275del loss of function mTOR Inhibitor mTORC1 Inhibitor