Gene Variant Detail

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Gene ATM
Variant L2077I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L2077I

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Transcript NM_000051.3
gDNA chr11:g.108317403C>A
cDNA c.6229C>A
Protein p.L2077I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017791 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_005271561 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_017017789 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_011542840 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_017017790 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108320000C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_011542843 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_011542842 chr11:g.108320000C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_006718843 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
NM_000051 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_005271562 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108317403C>A c.6229C>A p.L2077I RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References