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@jax.org
Gene | ATM |
Variant | L2572fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM L2572fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2572 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L2572fs has not been characterized, however, due to the effects of other truncation mutations downstream of L2572 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM L2572fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108331962_108331963) |
cDNA | c.(7714_7713) |
Protein | p.L2572fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017789.2 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108331962_108331963) | c.(7714_7713) | p.L2572fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|