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ATM G514D - Gene Variant Detail

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Gene ATM
Variant G514D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 24728327, PMID: 11443540, PMID: 12473594), 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 G514D

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Transcript NM_000051.4
gDNA chr11:g.108251006G>A
cDNA c.1541G>A
Protein p.G514D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271561 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017791 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_006718843 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017789 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_011542840 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
NM_000051 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_005271562 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_011542843 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017792 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017790 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108251006G>A c.1541G>A p.G514D RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108251006G>A c.1541G>A p.G514D 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.
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries