Gene Variant Detail

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Gene TSC1
Variant R204C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC1 R204C does not lie within any known functional domains of the Tsc1 protein (UniProt.org). R204C 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 R204C

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Transcript NM_000368.5
gDNA chr9:g.132921872G>A
cDNA c.610C>T
Protein p.R204C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011518979.2 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_006717271 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001162426 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_017015098 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_005272211 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_000368 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_017015096 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_017015097 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_011518979 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132921872G>A c.610C>T p.R204C RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132921872G>A c.610C>T p.R204C 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