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Gene CDKN2A
Variant R128fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CDKN2A R128fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 128 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). R128fs has been identified in the scientific literature (PMID: 12853981, PMID: 21085193), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A R128fs

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Transcript NM_000077.5
gDNA chr9:g.(21970977_21970978)
cDNA c.(382_381)
Protein p.R128fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21970977_21970978) c.(382_381) p.R128fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21970977_21970978) c.(382_381) p.R128fs 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries