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Gene | SMARCB1 |
Variant | D22G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 D22G lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). D22G 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 D22G |
Transcript | NM_003073.5 |
gDNA | chr22:g.23787234A>G |
cDNA | c.65A>G |
Protein | p.D22G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001317946 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_001362877.2 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_001007468.2 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_001317946.1 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
XM_011530345 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
XM_011530345.2 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_001007468.3 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_001007468 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
NM_001317946.2 | chr22:g.23787234A>G | c.65A>G | p.D22G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCB1 D22G | unknown |