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Gene | B2M |
Variant | D96G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | B2M D96G lies within the Ig-like C1-type domain of the B2m protein (UniProt.org). D96G 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 D96G |
Transcript | NM_004048.4 |
gDNA | chr15:g.44715642A>G |
cDNA | c.287A>G |
Protein | p.D96G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004048 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
XM_005254549.3 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
NM_004048.4 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
XM_005254549 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
NM_004048.2 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
XM_005254549.4 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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