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 | R337C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 30181556, PMID: 29335443, PMID: 27334835), 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 R337X ATM R337C |
Transcript | NM_000051.4 |
gDNA | chr11:g.108247071C>T |
cDNA | c.1009C>T |
Protein | p.R337C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |