TSC1 R22W
Gene Variant Detail

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Gene TSC1
Variant R22W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC1 R22W does not lie within any known functional domains of the Tsc1 protein (UniProt.org). R22W results in a loss of Tsc1 binding to Tsc2 and increased phosphorylation of S6k in cell culture (PMID: 28215400).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 R22W

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Transcript NM_000368.5
gDNA chr9:g.132928809G>A
cDNA c.64C>T
Protein p.R22W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015097 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001162427 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_006717271 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_005272211 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_000368 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001162426 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_011518979 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_017015096 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_017015098 chr9:g.132928809G>A c.64C>T p.R22W RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132928809G>A c.64C>T p.R22W 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