Gene Variant Detail

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Gene ATM
Variant W3052C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C has been identified in sequencing studies (PMID: 26837699), 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 W3052C

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Transcript NM_000051.4
gDNA chr11:g.108365493G>T
cDNA c.9156G>T
Protein p.W3052C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843.5 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
NM_000051 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_017017790 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108365493G>T c.9156G>T p.W3052C RefSeq GRCh38/hg38

Filtering

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  • 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.
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  • 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