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 TSC1
Variant L72R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 L72R does not lie within any known functional domains of the Tsc1 protein (UniProt.org). L72R has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 L72R

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_000368.5
gDNA chr9:g.132925735A>C
cDNA c.215T>G
Protein p.L72R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005272211.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_017015098 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001162426 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_017015096 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_005272211 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_017015097 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_006717271 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_011518979 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_000368 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132925735A>C c.215T>G p.L72R RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132925735A>C c.215T>G p.L72R 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