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Gene | SMARCB1 |
Variant | G80R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 G80R lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). G80R 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 G80R |
Transcript | NM_003073.5 |
gDNA | chr22:g.23793564G>A |
cDNA | c.238G>A |
Protein | p.G80R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001362877.2 | chr22:g.23793564G>A | c.238G>A | p.G80R | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23793564G>A | c.238G>A | p.G80R | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23793564G>A | c.238G>A | p.G80R | RefSeq | GRCh38/hg38 |
XM_011530345 | chr22:g.23793564G>A | c.238G>A | p.G80R | RefSeq | GRCh38/hg38 |
XM_011530345.2 | chr22:g.23793564G>A | c.238G>A | p.G80R | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23793564G>A | c.238G>A | p.G80R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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