Gene Variant Detail

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Gene CDKN2A
Variant L78fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A L78fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 78 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). L78fs has not been characterized, however, due to the effects of other truncation mutations downstream of L78 (PMID: 9053859, 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 L78fs

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Transcript NM_000077.5
gDNA chr9:g.(21971127_21971128)
cDNA c.(232_231)
Protein p.L78fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.2 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971127_21971128) c.(232_231) p.L78fs RefSeq GRCh38/hg38

Filtering

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Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries