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Gene TSC1
Variant F216A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 F216A does not lie within any known functional domains of the Tsc1 protein (UniProt.org). F216A results in altered subcellular localization but interaction with Tsc2 similar to wild-type Tsc1 and attenuates mTor signaling in cultured cells (PMID: 18397877), and therefore, its effect on Tsc1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 F216A

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Transcript NM_000368.5
gDNA chr9:g.132921835_132921836delTTinsGC
cDNA c.646_647delTTinsGC
Protein p.F216A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406605.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A 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