Gene Variant Detail

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Gene CDKN2A
Variant D74H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A D74H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74H retains the ability to inhibit proliferation and cell cycle progression (PMID: 35001868), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A D74H

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Transcript NM_000077.5
gDNA chr9:g.21971139C>G
cDNA c.220G>C
Protein p.D74H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047422597.1 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
CDKN2A mutant skin melanoma not applicable N/A Guideline Risk Factor Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). detail...
CDKN2A mutant biliary tract cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with biliary cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.3 weeks and an overall survival of 11.1 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...
CDKN2A mutant pancreatic cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with pancreatic cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.2 weeks and an overall survival of 12.4 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...