Gene Variant Detail

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Gene TSC1
Variant T417I
Impact List missense
Protein Effect no effect
Gene Variant Descriptions TSC1 T417I lies within the region of the Tsc1 protein that mediates interaction with WDR45B (UniProt.org). T417I demonstrates cellular localization, binding to Tsc2, and inhibition of S6 phosphorylation similar to wild-type Tsc1 in culture (PMID: 18397877).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 T417I

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Transcript NM_000368.5
gDNA chr9:g.132910584G>A
cDNA c.1250C>T
Protein p.T417I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406601.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_017015097 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_005272211 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_006717271 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_000368 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_017015096 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
XM_011518979 chr9:g.132910584G>A c.1250C>T p.T417I RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132910584G>A c.1250C>T p.T417I 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