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 | SF3B1 |
Variant | W658L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SF3B1 W658L lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). W658L has been identified in sequencing studies (PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Dec 2020). |
Associated Drug Resistance |
Transcript | NM_012433.3 |
gDNA | chr2:g.197402660C>A |
cDNA | c.1973G>T |
Protein | p.W658L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012433 | chr2:g.197402660C>A | c.1973G>T | p.W658L | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.197402660C>A | c.1973G>T | p.W658L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SF3B1 W658L | unknown |