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Gene | ATM |
Variant | D1682Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM D1682Y does not lie within any known functional domains of the Atm protein (UniProt.org). D1682Y demonstrates decreased kinase activity in combination with ATM I1681V in patient cells (PMID: 16014569), 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 D1682Y |
Transcript | NM_000051.4 |
gDNA | chr11:g.108299752G>T |
cDNA | c.5044G>T |
Protein | p.D1682Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |