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Gene | ATM |
Variant | L2890V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L2890V lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). L2890V is associated with defective induction of Tp53 target gene expression in response to DNA damage in combination with ATM R3008H in patient-derived cells (PMID: 23585524), but has not been individually characterized and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L2890V |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347362C>G |
cDNA | c.8668C>G |
Protein | p.L2890V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843.4 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_047426978.1 | chr11:g.108354857C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_047426979.1 | chr11:g.108354857C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542842.4 | chr11:g.108354857C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_047426977.1 | chr11:g.108354857C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542842 | chr11:g.108354857C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108347362C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
XM_011542842.3 | chr11:g.108354857C>G | c.8668C>G | p.L2890V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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