BTK Y361H
Gene Variant Detail

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Gene BTK
Variant Y361H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK Y361H lies within the SH2 domain of the Btk protein (UniProt.org). Y361H retains binding to Plcg2 and Cdc37, and demonstrates Plcg2 phosphorylation and Btk autophosphorylation levels similar to wild-type Btk, but results in decreased protein stability and expression, and elevated phosphorylation of Akt in anti-immunoglobulin treated cells in culture (PMID: 33419778), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BTK mutant BTK Y361H

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Transcript NM_000061.3
gDNA chrX:g.101358331A>G
cDNA c.1081T>C
Protein p.Y361H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101358331A>G c.1081T>C p.Y361H RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101358331A>G c.1081T>C p.Y361H 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK Y361H lymphoma sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, a lymphoma cell line expressing BTK Y361H was sensitive to Imbruvica (ibrutinib) treatment in culture, demonstrating decreased cell viability (PMID: 33419778). 33419778