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Gene | SF3B1 |
Variant | R549fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | SF3B1 R549fs results in a change in the amino acid sequence of the Sf3b1 protein beginning at aa 549 of 1304, likely resulting in premature truncation of the functional protein (UniProt.org). R549fs has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2020). |
Associated Drug Resistance |
Transcript | NM_012433.3 |
gDNA | chr2:g.(197403659_197403660) |
cDNA | c.(1645_1644) |
Protein | p.R549fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012433 | chr2:g.197403659_197403660insGCGGGGGGGGGTT | c.1644_1645insAACCCCCCCCCGC | p.R549fs*13 | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.(197403659_197403660) | c.(1645_1644) | p.R549fs | 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 R549fs | unknown |