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 | SMARCA4 |
Variant | A1536T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCA4 A1536T lies within the Bromo domain of the Smarca4 protein (UniProt.org). A1536T has been identified in sequencing studies (PMID: 22810696, PMID: 27149842, PMID: 30269082), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 A1536T |
Transcript | NM_003072.5 |
gDNA | chr19:g.11058860G>A |
cDNA | c.4606G>A |
Protein | p.A1536T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047439244.1 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
NM_001128844 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
NM_003072 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.11058860G>A | c.4606G>A | p.A1536T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|