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 | S592F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BTK S592F lies within the protein kinase domain of the Btk protein (UniProt.org). S592F has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BTK mutant BTK S592F |
Transcript | NM_000061.3 |
gDNA | chrX:g.101353327G>A |
cDNA | c.1775C>T |
Protein | p.S592F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000061 | chrX:g.101353327G>A | c.1775C>T | p.S592F | RefSeq | GRCh38/hg38 |
NM_000061.3 | chrX:g.101353327G>A | c.1775C>T | p.S592F | RefSeq | GRCh38/hg38 |
NM_000061.2 | chrX:g.101353327G>A | c.1775C>T | p.S592F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|