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Gene | B2M |
Variant | E64* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | B2M E64* results in a premature truncation of the B2m protein at amino acid 64 of 119 (UniProt.org). E64* 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, Jan 2023). |
Associated Drug Resistance | |
Category Variants Paths |
B2M mutant B2M E64* |
Transcript | NM_004048.4 |
gDNA | chr15:g.44715545G>T |
cDNA | c.190G>T |
Protein | p.E64* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004048.4 | chr15:g.44715545G>T | c.190G>T | p.E64* | RefSeq | GRCh38/hg38 |
NM_004048 | chr15:g.44715545G>T | c.190G>T | p.E64* | RefSeq | GRCh38/hg38 |
XM_005254549.4 | chr15:g.44715545G>T | c.190G>T | p.E64* | RefSeq | GRCh38/hg38 |
XM_005254549 | chr15:g.44715545G>T | c.190G>T | p.E64* | RefSeq | GRCh38/hg38 |
NM_004048.2 | chr15:g.44715545G>T | c.190G>T | p.E64* | RefSeq | GRCh38/hg38 |
XM_005254549.3 | chr15:g.44715545G>T | c.190G>T | p.E64* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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