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Gene | B2M |
Variant | Y87* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | B2M Y87* results in a premature truncation of the B2m protein at amino acid 87 of 119 (UniProt.org). Y87* 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, Apr 2021). |
Associated Drug Resistance | |
Category Variants Paths |
B2M mutant B2M Y87* |
Transcript | NM_004048.4 |
gDNA | chr15:g.44715616C>A |
cDNA | c.261C>A |
Protein | p.Y87* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005254549 | chr15:g.44715616C>A | c.261C>A | p.Y87* | RefSeq | GRCh38/hg38 |
XM_005254549.4 | chr15:g.44715616C>A | c.261C>A | p.Y87* | RefSeq | GRCh38/hg38 |
NM_004048 | chr15:g.44715616C>A | c.261C>A | p.Y87* | RefSeq | GRCh38/hg38 |
XM_005254549.3 | chr15:g.44715616C>A | c.261C>A | p.Y87* | RefSeq | GRCh38/hg38 |
NM_004048.4 | chr15:g.44715616C>A | c.261C>A | p.Y87* | RefSeq | GRCh38/hg38 |
NM_004048.2 | chr15:g.44715616C>A | c.261C>A | p.Y87* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
B2M Y87* | unknown |