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Gene | SMARCB1 |
Variant | R261C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 R261C lies within repeat 2 of the Smarcb1 protein (UniProt.org). R261C has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 R261C |
Transcript | NM_003073.5 |
gDNA | chr22:g.23816922C>T |
cDNA | c.781C>T |
Protein | p.R261C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073 | chr22:g.23816922C>T | c.781C>T | p.R261C | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23816922C>T | c.781C>T | p.R261C | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23816922C>T | c.781C>T | p.R261C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCB1 R261C | unknown |