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Gene | ATM |
Variant | V1841I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM V1841I does not lie within any known functional domains of the Atm protein (UniProt.org). V1841I restores viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM V1841I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108304699G>A |
cDNA | c.5521G>A |
Protein | p.V1841I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |