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Gene CDKN2A
Variant W110fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A W110fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 110 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). W110fs has not been characterized, however, due to the effects of a truncation mutation at the same site (PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A W110fs

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Transcript NM_000077.5
gDNA chr9:g.(21971031_21971032)
cDNA c.(328_327)
Protein p.W110fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.2 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974500_21974501) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_058197 chr9:g.(21974500_21974501) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974500_21974501) c.(328_327) p.W110fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971031_21971032) c.(328_327) p.W110fs RefSeq GRCh38/hg38

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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