Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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, Jun 2025). |
| 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_004048.2 | 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 |
| XM_005254549.4 | chr15:g.44715642A>G | c.287A>G | p.D96G | RefSeq | GRCh38/hg38 |
| 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 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|