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@genomenon.com

Gene ATM
Variant E473*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM E473* results in a premature truncation of the Atm protein at amino acid 473 of 3056 (UniProt.org). E473* results in the loss of Atm protein expression in patient cells (PMID: 38416404), and due to the effects of other truncation mutations downstream of E473 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM E473*

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.108250882G>T
cDNA c.1417G>T
Protein p.E473*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.4 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108250882G>T c.1417G>T p.E473* RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108250882G>T c.1417G>T p.E473* 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 Protein Effect Treatment Approaches
ATM E473* loss of function - predicted Olaparib
ATM E473* ATM loss