Gene Variant Detail

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Gene ATM
Variant N1356D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM N1356D does not lie within any known functional domains of the Atm protein (UniProt.org). N1356D has been identified in sequencing studies (PMID: 19781682, PMID: 30181556, PMID: 25980754), 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 N1356D

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Transcript NM_000051.4
gDNA chr11:g.108287672A>G
cDNA c.4066A>G
Protein p.N1356D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.3 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_006718843 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_011542843 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_005271562 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_011542840 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017790 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_005271561 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017792 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017791 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
NM_000051 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108287672A>G c.4066A>G p.N1356D RefSeq GRCh38/hg38
XM_017017789 chr11:g.108287672A>G c.4066A>G p.N1356D 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References