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Gene | ATM |
Variant | A2843V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM A2843V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). A2843V has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM A2843V |
Transcript | NM_000051.4 |
gDNA | chr11:g.108345852C>T |
cDNA | c.8528C>T |
Protein | p.A2843V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562.5 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108345852C>T | c.8528C>T | p.A2843V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM A2843V | unknown | |
ATM Q628Pfs*7 ATM I1581Nfs*5 ATM A2843V |