BTK G480R
Gene Variant Detail

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Gene BTK
Variant G480R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK G480R lies within the protein kinase domain of the Btk protein (UniProt.org). G480R results in loss of kinase activity and reduced Btk and Plcg2 phosphorylation, increased Akt phosphorylation, and a greater sustained calcium influx upon IgM stimulation, and demonstrates resistance to BTK inhibitors in culture (PMID: 36661329).
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK inact mut BTK G480R

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Transcript NM_000061.3
gDNA chrX:g.101356180C>G
cDNA c.1438G>C
Protein p.G480R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101356180C>G c.1438G>C p.G480R 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK G480R mantle cell lymphoma resistant Fenebrutinib Preclinical - Cell culture Actionable In a preclinical study, a mantle cell lymphoma cell line developed resistance to Fenebrutinib (GDC-0853) after prolonged exposure in culture, and was subsequently found to have acquired BTK G480R (PMID: 36661329). 36661329
BTK G480R mantle cell lymphoma resistant RN486 Preclinical - Cell culture Actionable In a preclinical study, a mantle cell lymphoma cell line developed resistance to RN486 after prolonged exposure in culture, and was subsequently found to have acquired BTK G480R (PMID: 36661329). 36661329
BTK G480R mantle cell lymphoma sensitive ARQ 531 Preclinical - Cell culture Actionable In a preclinical study, ARQ 531 inhibited viability of a mantle cell lymphoma cell line harboring BTK G480R in culture (PMID: 36661329). 36661329