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Gene | ATM |
Variant | G2287A |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM G2287A lies within the FAT domain of the Atm protein (UniProt.org). G2287A results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM G2287A |
Transcript | NM_000051.4 |
gDNA | chr11:g.108326110G>C |
cDNA | c.6860G>C |
Protein | p.G2287A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |