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| Gene | B2M |
| Variant | L13P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | B2M L13P lies within the signal peptide region of the B2m protein (UniProt.org). L13P has been identified in the scientific literature (PMID: 31008436), but has not been biochemically characterized and therefore, its effect on B2m protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
B2M mutant B2M L13P |
| Transcript | NM_004048.4 |
| gDNA | chr15:g.44711584T>C |
| cDNA | c.38T>C |
| Protein | p.L13P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005254549.4 | chr15:g.44711584T>C | c.38T>C | p.L13P | RefSeq | GRCh38/hg38 |
| NM_004048 | chr15:g.44711584T>C | c.38T>C | p.L13P | RefSeq | GRCh38/hg38 |
| NM_004048.4 | chr15:g.44711584T>C | c.38T>C | p.L13P | RefSeq | GRCh38/hg38 |
| XM_005254549.3 | chr15:g.44711584T>C | c.38T>C | p.L13P | RefSeq | GRCh38/hg38 |
| NM_004048.2 | chr15:g.44711584T>C | c.38T>C | p.L13P | RefSeq | GRCh38/hg38 |
| XM_005254549 | chr15:g.44711584T>C | c.38T>C | p.L13P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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