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Gene | SF3B1 |
Variant | E17* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | SF3B1 E17* results in a premature truncation of the Sf3b1 protein at amino acid 17 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E17* is predicted to lead to a loss of Sf3b1 protein function. |
Associated Drug Resistance |
Transcript | NM_012433.3 |
gDNA | chr2:g.197423954C>A |
cDNA | c.49G>T |
Protein | p.E17* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001308824 | chr2:g.197423954C>A | c.49G>T | p.E17* | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.197423954C>A | c.49G>T | p.E17* | RefSeq | GRCh38/hg38 |
NM_001005526.2 | chr2:g.197423954C>A | c.49G>T | p.E17* | RefSeq | GRCh38/hg38 |
NM_001308824.1 | chr2:g.197423954C>A | c.49G>T | p.E17* | RefSeq | GRCh38/hg38 |
NM_012433 | chr2:g.197423954C>A | c.49G>T | p.E17* | RefSeq | GRCh38/hg38 |
NM_001005526 | chr2:g.197423954C>A | c.49G>T | p.E17* | 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 E17* | loss of function - predicted |