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 | G1232V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCA4 G1232V lies within the C-terminal helicase domain of the SMarca4 protein (UniProt.org). G1232V has been identified in sequencing studies (PMID: 31988001, PMID: 29875142), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 G1232V |
Transcript | NM_003072.5 |
gDNA | chr19:g.11033438G>T |
cDNA | c.3695G>T |
Protein | p.G1232V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024451663.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128847.4 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451661.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439251.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451666.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001411150.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451667.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128847.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128846.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451658.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128845.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128849.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439248.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_006722845.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439250.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001374457.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451662.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128848.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128845.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439249.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451660.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451663.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451661.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451659.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439247.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_006722846.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128846.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451664.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451665.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128848.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_047439246.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_024451667.2 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
XM_011528198.1 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.11033438G>T | c.3695G>T | p.G1232V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|