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Gene | RB1 |
Variant | G435* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RB1 G435* results in a premature truncation of the Rb1 protein at amino acid 435 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), G435* is predicted to lead to a loss of Rb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 inact mut RB1 G435* |
Transcript | NM_000321.3 |
gDNA | chr13:g.48377005G>T |
cDNA | c.1303G>T |
Protein | p.G435* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000321 | chr13:g.48377005G>T | c.1303G>T | p.G435* | RefSeq | GRCh38/hg38 |
NM_000321.2 | chr13:g.48377005G>T | c.1303G>T | p.G435* | RefSeq | GRCh38/hg38 |
NM_001407165.1 | chr13:g.48377005G>T | c.1303G>T | p.G435* | RefSeq | GRCh38/hg38 |
NM_000321.3 | chr13:g.48377005G>T | c.1303G>T | p.G435* | RefSeq | GRCh38/hg38 |
NM_001407166.1 | chr13:g.48377005G>T | c.1303G>T | p.G435* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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