Gene Variant Detail

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Gene ABL1
Variant R362fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ABL1 R362fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 362 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R362fs is predicted to lead to a loss of Abl1 protein function.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 inact mut ABL1 R362fs

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Transcript NM_005157.6
gDNA chr9:g.(130873035_130873036)
cDNA c.(1084_1083)
Protein p.R362fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.(130873035_130873036) c.(1084_1083) p.R362fs RefSeq GRCh38/hg38
NM_005157.5 chr9:g.(130873035_130873036) c.(1084_1083) p.R362fs RefSeq GRCh38/hg38
NM_005157.6 chr9:g.(130873035_130873036) c.(1084_1083) p.R362fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

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Molecular Profile Protein Effect Treatment Approaches
ABL1 R362fs loss of function - predicted