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Gene | SF3B1 |
Variant | L1212M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SF3B1 L1212M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). L1212M has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Nov 2020). |
Associated Drug Resistance |
Transcript | NM_012433.3 |
gDNA | chr2:g.197393094A>T |
cDNA | c.3634T>A |
Protein | p.L1212M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012433 | chr2:g.197393094A>T | c.3634T>A | p.L1212M | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.197393094A>T | c.3634T>A | p.L1212M | 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 L1212M | unknown |