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Gene | CDKN2A |
Variant | R29_A34del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A R29_A34del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 29 to 34 (UniProt.org). R29_A34del has been identified in sequencing studies (PMID: 30857943, PMID: 26390243), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A R29_A34del |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974727_21974744del18 |
cDNA | c.85_102del18 |
Protein | p.R29_A34delRALLEA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047422598.1 | chr9:g.21971104_21971121del18 | c.85_102del18 | p.R29_A34delRPVHDA | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21971104_21971121del18 | c.85_102del18 | p.R29_A34delRPVHDA | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34del | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34delRALLEA | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34del | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21971104_21971121del18 | c.85_102del18 | p.R29_A34delRPVHDA | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34delRALLEA | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34delRALLEA | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21971104_21971121del18 | c.85_102del18 | p.R29_A34delRPVHDA | RefSeq | GRCh38/hg38 |
NM_058195.4 | chr9:g.21994231_21994248del18 | c.85_102del18 | p.R29_W34delRLTGEW | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34del | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34del | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34del | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34delRALLEA | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974727_21974744del18 | c.85_102del18 | p.R29_A34delRALLEA | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A R29_A34del | unknown |