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Gene CDKN2A
Variant A68T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A A68T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A68T results in decreased binding to Cdk4 and altered subcellular localization of Cdkn2a, but induces cell-cycle arrest similar to wild-type Cdkn2a in culture (PMID: 11518711, PMID: 18990760), and induced similar cell proliferation and cell viability as wild-type protein in one of two cell lines (PMID: 29533785), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A A68T

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Transcript NM_000077.5
gDNA chr9:g.21971157C>T
cDNA c.202G>A
Protein p.A68T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
NM_000077 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971157C>T c.202G>A p.A68T RefSeq GRCh38/hg38

Filtering

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