Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | BTK |
Variant | R544W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BTK R544W lies within the protein kinase domain of the Btk protein (UniProt.org). R544W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BTK mutant BTK R544W |
Transcript | NM_000061.3 |
gDNA | chrX:g.101354631T>A |
cDNA | c.1630A>T |
Protein | p.R544W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000061 | chrX:g.101354631T>A | c.1630A>T | p.R544W | RefSeq | GRCh38/hg38 |
NM_000061.2 | chrX:g.101354631T>A | c.1630A>T | p.R544W | RefSeq | GRCh38/hg38 |
NM_000061.3 | chrX:g.101354631T>A | c.1630A>T | p.R544W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BTK R544W | unknown |