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 | SMARCB1 |
Variant | A312T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 A312T lies within repeat 2 and the PPP1R15A-interacting region of the Smarcb1 protein (UniProt.org). A312T has been identified in sequencing studies (PMID: 28263318, PMID: 25855536, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 A312T |
Transcript | NM_003073.5 |
gDNA | chr22:g.23825363G>A |
cDNA | c.934G>A |
Protein | p.A312T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011530345.2 | chr22:g.23825309G>A | c.934G>A | p.A312T | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23825363G>A | c.934G>A | p.A312T | RefSeq | GRCh38/hg38 |
XM_011530345 | chr22:g.23825309G>A | c.934G>A | p.A312T | RefSeq | GRCh38/hg38 |
NM_001362877.2 | chr22:g.23825309G>A | c.934G>A | p.A312T | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23825363G>A | c.934G>A | p.A312T | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23825363G>A | c.934G>A | p.A312T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|