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Gene SMARCB1
Variant T232M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 T232M lies within repeat 1 and the HIV-1 integrase and MYC-binding regions of the Smarcb1 protein (UniProt.org). T232M has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 T232M

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Transcript NM_003073.5
gDNA chr22:g.23816836C>T
cDNA c.695C>T
Protein p.T232M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073.4 chr22:g.23816836C>T c.695C>T p.T232M RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23816836C>T c.695C>T p.T232M RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23816782C>T c.695C>T p.T232M RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23816782C>T c.695C>T p.T232M RefSeq GRCh38/hg38
XM_011530345 chr22:g.23816782C>T c.695C>T p.T232M RefSeq GRCh38/hg38
NM_003073 chr22:g.23816836C>T c.695C>T p.T232M RefSeq GRCh38/hg38

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References