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Gene | RAD51D |
Variant | E157* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51D E157* results in a premature truncation of the Rad51d protein at amino acid 157 of 328 (UniProt.org). E157* has not been characterized however, due to the effects of other truncation mutations downstream of E157 (PMID: 33151324), is predicted to lead to a loss of Rad51d protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D E157* |
Transcript | NM_002878.4 |
gDNA | chr17:g.35106999C>A |
cDNA | c.469G>T |
Protein | p.E157* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.4 | chr17:g.35106999C>A | c.469G>T | p.E157* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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