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Gene TSC2
Variant A583T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 A583T does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A583T has been identified in the scientific literature (PMID: 10205261), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 A583T

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Transcript NM_000548.5
gDNA chr16:g.2070486G>A
cDNA c.1747G>A
Protein p.A583T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001370404.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2080248G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2079156G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2070486G>A c.1747G>A p.A583T RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2070486G>A c.1747G>A p.A583T 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