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Gene CDKN2A
Variant A127fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CDKN2A A127fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 127 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A127fs has been identified in sequencing studies (PMID: 9808520), 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 A127fs

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Transcript NM_000077.5
gDNA chr9:g.(21970980_21970981)
cDNA c.(379_378)
Protein p.A127fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.3 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21970980_21970981) c.(379_378) p.A127fs RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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