Gene Detail

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Gene Symbol BTK
Synonyms AGMX1 | AT | ATK | BPK | IGHD3 | IMD1 | PSCTK1 | XLA
Gene Description BTK, Bruton tyrosine kinase, is a non-receptor tyrosine kinase involved in B-cell activation and development (PMID: 24658273). BTK is commonly overexpressed in various hematological malignancies (PMID: 24658273) and BTK mutations have been linked to BTK inhibitor drug resistance (PMID: 28235842).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
C481X missense unknown BTK C481X indicates any BTK missense mutation that results in the replacement of the cysteine (C) at amino acid 481 by a different amino acid.
act mut unknown gain of function BTK act mut indicates that this variant results in a gain of function in the Btk protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function BTK inact mut indicates that this variant results in a loss of function of the Btk protein. However, the specific amino acid change has not been identified.
mutant unknown unknown BTK mutant indicates an unspecified mutation in the BTK gene.
N161fs frameshift loss of function - predicted BTK N161fs results in a change in the amino acid sequence of the Btk protein beginning at aa 161 of 659, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N161fs is predicted to lead to a loss of Btk function.