Gene Variant Detail

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Gene ATM
Variant W412C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM W412C does not lie within any known functional domains of the Atm protein (UniProt.org). W412C results in splicing similar to wild type in cell culture (PMID: 24586880), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM W412C

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Transcript NM_000051.4
gDNA chr11:g.108250701G>T
cDNA c.1236G>T
Protein p.W412C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426976.1 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108250701G>T c.1236G>T p.W412C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108250701G>T c.1236G>T p.W412C 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