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 | R370C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCA4 R370C does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R370C has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCA4 mutant SMARCA4 R370C |
Transcript | NM_003072.5 |
gDNA | chr19:g.10987914C>T |
cDNA | c.1108C>T |
Protein | p.R370C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017027165 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001411150.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451666.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_003072.5 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_006722846.3 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_011528198.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027160 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128844.3 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451663.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439244.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439248.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_006722845.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128846.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128848.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128844 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128848.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027168 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128849 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027162 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451664.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451667.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_006722845 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451661.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027161 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128846 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_006722846 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451661.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451659.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027163 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451663.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451658.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439251.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027166 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_003072.3 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439250.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128847.4 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128844.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451667.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027167 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451660.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_011528198.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128845.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128848 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128847.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439243.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_003072 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451662.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451658.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128846.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_017027164 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001374457.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439246.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128849.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439249.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128845 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_011528198 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_006722846.2 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128845.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_047439247.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
XM_024451665.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128849.3 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001128847 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
NM_001387283.1 | chr19:g.10987914C>T | c.1108C>T | p.R370C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|