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Gene TSC2
Variant H597N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 H597N does not lie within any known functional domains of the Tsc2 protein (UniProt.org). H597N has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 H597N

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Transcript NM_000548.5
gDNA chr16:g.2070528C>A
cDNA c.1789C>A
Protein p.H597N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636.2 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2070528C>A c.1789C>A p.H597N RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2070528C>A c.1789C>A p.H597N 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 H597N unknown