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Gene TSC1
Variant D47N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 D47N does not lie within any known functional domains of the Tsc1 protein (UniProt.org). D47N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 D47N

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Transcript NM_000368.5
gDNA chr9:g.132927272C>T
cDNA c.139G>A
Protein p.D47N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001162427.2 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_000368 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001162427 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001162426 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_017015097 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_006717271 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_017015098 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_011518979 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_005272211 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_017015096 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132927272C>T c.139G>A p.D47N RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132927272C>T c.139G>A p.D47N 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
TSC1 D47N unknown