Gene Variant Detail

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Gene ATM
Variant C353fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM C353fs results in a change in the amino acid sequence of the Atm protein beginning at aa 353 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C353fs is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM C353fs

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Transcript NM_000051.3
gDNA chr11:g.(108247118_108247119)
cDNA c.(1057_1056)
Protein p.C353fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017790 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_005271561 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_011542843 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017792 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_005271562 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_006718843 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
NM_000051 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017789 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_011542840 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017791 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108247118_108247119) c.(1057_1056) p.C353fs RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • 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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  • 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