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 | V591E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SF3B1 V591E lies within HEAT repeat 2 of the Sf3b1 protein (UniProt.org). V591E has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Feb 2021). |
Associated Drug Resistance |
Transcript | NM_012433.3 |
gDNA | chr2:g.197402983A>T |
cDNA | c.1772T>A |
Protein | p.V591E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012433 | chr2:g.197402983A>T | c.1772T>A | p.V591E | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.197402983A>T | c.1772T>A | p.V591E | 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 V591E | unknown |