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Gene | RAD54L |
Variant | P112A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD54L P112A does not lie within any known functional domains of the Rad54l protein (UniProt.org). P112A retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD54L mutant RAD54L P112A |
Transcript | NM_001142548.2 |
gDNA | chr1:g.46260026C>G |
cDNA | c.334C>G |
Protein | p.P112A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003579.4 | chr1:g.46260026C>G | c.334C>G | p.P112A | RefSeq | GRCh38/hg38 |
NM_001142548 | chr1:g.46260026C>G | c.334C>G | p.P112A | RefSeq | GRCh38/hg38 |
NM_001142548.2 | chr1:g.46260026C>G | c.334C>G | p.P112A | RefSeq | GRCh38/hg38 |
NM_003579 | chr1:g.46260026C>G | c.334C>G | p.P112A | RefSeq | GRCh38/hg38 |
NM_001142548.1 | chr1:g.46260026C>G | c.334C>G | p.P112A | RefSeq | GRCh38/hg38 |
NM_003579.3 | chr1:g.46260026C>G | c.334C>G | p.P112A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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