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Gene TSC2
Variant A607E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 A607E does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A607E results in the loss of repression of Mtorc1 as indicated by assays that demonstrate increased phosphorylation of S6k in cultured cells (PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 A607E

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Transcript NM_000548.5
gDNA chr16:g.2070559C>A
cDNA c.1820C>A
Protein p.A607E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_001406682.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_001406688.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2080321_2080322delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2070559C>A c.1820C>A p.A607E RefSeq GRCh38/hg38
NM_001406687.1 chr16:g.2074264_2074265delCCinsAG c.1820_1821delCCinsAG p.A607E RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2070559C>A c.1820C>A p.A607E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References