Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene TSC2
Variant A1719T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 A1719T lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). A1719T has been identified in sequencing studies (PMID: 31308077), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 A1719T

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.

Transcript NM_000548.5
gDNA chr16:g.2088134G>A
cDNA c.5155G>A
Protein p.A1719T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2088134G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088134G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2088290G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_000548 chr16:g.2088134G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2088290G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_001114382 chr16:g.2088290G>A c.5155G>A p.A1719T 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 A1719T unknown