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 | ATM |
| Variant | R3008X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM R3008X indicates any ATM missense mutation that results in replacement of the arginine (R) at amino acid 3008 by a different amino acid. |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM R3008X |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108365359_108365361 |
| cDNA | c.9022_9024 |
| Protein | p.R3008 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011542840.4 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| XM_017017790.3 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| NM_001351834.2 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| NM_000051.4 | chr11:g.108365359_108365361 | c.9022_9024 | p.R3008 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|