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Gene | SMARCB1 |
Variant | R377H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 R377H does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R377H has been identified in the scientific literature (PMID: 31470906, PMID: 35568945, PMID: 35774130), 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 R377H |
Transcript | NM_003073.5 |
gDNA | chr22:g.23834152G>A |
cDNA | c.1130G>A |
Protein | p.R377H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073.5 | chr22:g.23834152G>A | c.1130G>A | p.R377H | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23834152G>A | c.1130G>A | p.R377H | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23834152G>A | c.1130G>A | p.R377H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCB1 R377H | unknown |