Gene Variant Detail

Contact

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@jax.org

Gene ATM
Variant R3008L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM R3008L does not lie within any known functional domains of the Atm protein (UniProt.org). R3008L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM R3008X ATM R3008L

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000051.4
gDNA chr11:g.108365360G>T
cDNA c.9023G>T
Protein p.R3008L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108365360G>T c.9023G>T p.R3008L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References