TSC2 R622W
Gene Variant Detail

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Gene TSC2
Variant R622W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 R622W does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R622W confers a loss of function to the Tsc2 protein as it results in loss of Tsc1 binding and decreased Tsc2 GAP activity in cell culture (PMID: 20633017).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 R622W

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Transcript NM_000548.5
gDNA chr16:g.2071534C>T
cDNA c.1864C>T
Protein p.R622W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_021055.3 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001077183 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522636 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001318832 chr16:g.2070570C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_005255529 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_000548 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2070570C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522639 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_017023615 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2070570C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_017023616 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2080365C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_005255531 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522640 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001114382 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522637 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2071534C>T c.1864C>T p.R622W RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2071534C>T c.1864C>T p.R622W 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 Protein Effect Treatment Approaches
TSC2 R622W loss of function mTOR Inhibitor mTORC1 Inhibitor