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Gene | RB1 |
Variant | K94N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RB1 K94N does not lie within any known functional domains of the Rb1 protein (UniProt.org). K94N has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 K94N |
Transcript | NM_000321.3 |
gDNA | chr13:g.48342616G>C |
cDNA | c.282G>C |
Protein | p.K94N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407165.1 | chr13:g.48342616G>C | c.282G>C | p.K94N | RefSeq | GRCh38/hg38 |
NM_000321.2 | chr13:g.48342616G>C | c.282G>C | p.K94N | RefSeq | GRCh38/hg38 |
NM_000321.3 | chr13:g.48342616G>C | c.282G>C | p.K94N | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.48342616G>C | c.282G>C | p.K94N | RefSeq | GRCh38/hg38 |
NM_001407166.1 | chr13:g.48342616G>C | c.282G>C | p.K94N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RB1 K94N | unknown |