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 | RAD54L |
Variant | E436* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD54L E436* results in a premature truncation of the Rad54l protein at amino acid 436 of 747 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), E436* is predicted to lead to a loss of Rad54l protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD54L mutant RAD54L inact mut RAD54L E436* |
Transcript | NM_001142548.2 |
gDNA | chr1:g.46272733G>T |
cDNA | c.1306G>T |
Protein | p.E436* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003579.3 | chr1:g.46272733G>T | c.1306G>T | p.E436* | RefSeq | GRCh38/hg38 |
NM_003579 | chr1:g.46272733G>T | c.1306G>T | p.E436* | RefSeq | GRCh38/hg38 |
NM_001142548.2 | chr1:g.46272733G>T | c.1306G>T | p.E436* | RefSeq | GRCh38/hg38 |
NM_003579.4 | chr1:g.46272733G>T | c.1306G>T | p.E436* | RefSeq | GRCh38/hg38 |
NM_001142548.1 | chr1:g.46272733G>T | c.1306G>T | p.E436* | RefSeq | GRCh38/hg38 |
NM_001142548 | chr1:g.46272733G>T | c.1306G>T | p.E436* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|