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CDKN2A Q50fs - Gene Variant Detail

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Gene CDKN2A
Variant Q50fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Q50fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 50 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). Q50fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q50 (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 Q50fs

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Transcript NM_000077.5
gDNA chr9:g.(21974680_21974681)
cDNA c.(148_147)
Protein p.Q50fs
Source Database RefSeq
Genome Build GRCh38/hg38

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