Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ATM |
Variant | M779I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM M779I does not lie within any known functional domains of the Atm protein (UniProt.org). M779I has been identified in the scientific literature (PMID: 38416404), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM M779I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108257567G>C |
cDNA | c.2337G>C |
Protein | p.M779I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542840.4 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108257567G>C | c.2337G>C | p.M779I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM M779I | unknown |