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 | SMARCE1 |
Variant | Q159K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCE1 Q159K does not lie within any known functional domains of the Smarce1 protein (UniProt.org). Q159K has been identified in sequencing studies (PMID: 33319313), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCE1 mutant SMARCE1 Q159K |
Transcript | NM_003079.5 |
gDNA | chr17:g.40635997G>T |
cDNA | c.475C>A |
Protein | p.Q159K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003079.5 | chr17:g.40635997G>T | c.475C>A | p.Q159K | RefSeq | GRCh38/hg38 |
NM_003079.4 | chr17:g.40635997G>T | c.475C>A | p.Q159K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCE1 Q159K | unknown |