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Gene | B2M |
Variant | G63fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | B2M G63fs results in a change in the amino acid sequence of the B2m protein beginning at 63 of 119, likely resulting in premature truncation of the functional protein (UniProt.org). G63fs has been identified in the scientific literature (PMID: 29070816), but has not been biochemically characterized and therefore, its effect on B2m protein function is unknown (PubMed, Jan 2023). |
Associated Drug Resistance | |
Category Variants Paths |
B2M mutant B2M G63fs |
Transcript | NM_004048.4 |
gDNA | chr15:g.(44715541_44715542) |
cDNA | c.(187_186) |
Protein | p.G63fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004048.4 | chr15:g.(44715541_44715542) | c.(187_186) | p.G63fs | RefSeq | GRCh38/hg38 |
XM_005254549.4 | chr15:g.(44715541_44715542) | c.(187_186) | p.G63fs | RefSeq | GRCh38/hg38 |
NM_004048 | chr15:g.(44715541_44715542) | c.(187_186) | p.G63fs | RefSeq | GRCh38/hg38 |
XM_005254549.3 | chr15:g.(44715541_44715542) | c.(187_186) | p.G63fs | RefSeq | GRCh38/hg38 |
XM_005254549 | chr15:g.(44715541_44715542) | c.(187_186) | p.G63fs | RefSeq | GRCh38/hg38 |
NM_004048.2 | chr15:g.(44715541_44715542) | c.(187_186) | p.G63fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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