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Gene | RAD51D |
Variant | A34V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D A34V lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). A34V binds Xrcc2 at similar levels to wild-type Rad51d (PMID: 28864920), but has not been fully biochemically characterized and therefore, its effect on Rad51d protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D A34V |
Transcript | NM_002878.4 |
gDNA | chr17:g.35119154G>A |
cDNA | c.101C>T |
Protein | p.A34V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001142571.2 | chr17:g.35119154G>A | c.101C>T | p.A34V | RefSeq | GRCh38/hg38 |
NM_001142571.1 | chr17:g.35119154G>A | c.101C>T | p.A34V | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35119154G>A | c.101C>T | p.A34V | RefSeq | GRCh38/hg38 |
NM_133629.2 | chr17:g.35119154G>A | c.101C>T | p.A34V | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35119154G>A | c.101C>T | p.A34V | RefSeq | GRCh38/hg38 |
NM_133629.3 | chr17:g.35119154G>A | c.101C>T | p.A34V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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