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Gene | SF3B1 |
Variant | D894N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SF3B1 D894N does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D894N has been identified in sequencing studies (PMID: 28380455, PMID: 25303977), 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.197400753C>T |
cDNA | c.2680G>A |
Protein | p.D894N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012433 | chr2:g.197400753C>T | c.2680G>A | p.D894N | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.197400753C>T | c.2680G>A | p.D894N | 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 D894N | unknown |