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 | T2947S |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM T2947S (also referred to as T2946S) lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). T2947S results in defective kinase activity in patient samples (PMID: 16014569), and therefore, is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM T2947S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108354864C>G |
cDNA | c.8840C>G |
Protein | p.T2947S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108354864C>G | c.8840C>G | p.T2947S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM T2947S | loss of function - predicted | Olaparib |