Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RAD51D |
Variant | L215Tfs*112 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D L215Tfs*112 indicates a shift in the reading frame starting at amino acid 215 and terminating 112 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). L215Tfs*112 has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D L215Tfs*112 |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103479dupT |
cDNA | c.642dupA |
Protein | p.L215Tfs*112 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.3 | chr17:g.35103479dupT | c.642dupA | p.L215Tfs*112 | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35103479dupT | c.642dupA | p.L215Tfs*112 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|