Gene Variant Detail

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Gene TSC1
Variant K477N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 K477N lies within the region of the Tsc1 protein that mediates interaction with WDR45B (UniProt.org). K477N has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 K477N

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Transcript NM_000368.5
gDNA chr9:g.132906738T>G
cDNA c.1431A>C
Protein p.K477N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406595.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_005272211 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_011518979 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_017015097 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_000368 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_006717271 chr9:g.132906738T>G c.1431A>C p.K477N RefSeq GRCh38/hg38
XM_017015096 chr9:g.132906738T>G c.1431A>C p.K477N 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