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 | G2772R |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM G2772R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2772R 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 G2772R |
Transcript | NM_000051.4 |
gDNA | chr11:g.108343267G>A |
cDNA | c.8314G>A |
Protein | p.G2772R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790.2 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108343267G>A | c.8314G>A | p.G2772R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM G2772R | no effect - predicted |