Gene Variant Detail

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Gene TSC1
Variant G1035S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions TSC1 G1035S does not lie within any known functional domains of the Tsc1 protein (UniProt.org). G1035S demonstrates protein stability and mTOR pathway inhibition similar to wild-type Tsc1 in cell culture (PMID: 18830229).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 G1035S

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Transcript NM_000368.5
gDNA chr9:g.132896627C>T
cDNA c.3103G>A
Protein p.G1035S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001162426 chr9:g.132896622_132896624delTCCinsGCT c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
XM_017015098 chr9:g.132896622_132896624delTCCinsGCT c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_006717271 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_011518979 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_017015097 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
NM_000368 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_017015096 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38
XM_005272211 chr9:g.132896627C>T c.3103G>A p.G1035S RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132896622_132896624delGGAinsAGC c.3103_3105delGGAinsAGC p.G1035S RefSeq GRCh38/hg38

Filtering

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  • 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