Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A

CDKN2A

4,107 papers

RefSeq Summary

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode stru...

Pfam Domains

P19Arf_Naa 4–54UCSCCyclin-dependent kinase inhibitor 2a p19Arf N-terminus

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 2A

HGNC Previous Symbols

CDKN2; MLM

Papers
RefSeq ID
Protein change
DNA change
1–12 of 2351 variants
290 papers
NM_000077.5
p.A148T
c.442G>A
270 papers
NM_000077.5
p.R80*
c.238C>T
240 papers
NM_000077.5
p.R58*
c.172C>T
219 papers
NM_000077.5
p.G101W
c.301G>T
176 papers
NM_000077.5
p.H83Y
c.247C>T
152 papers
NM_000077.5
p.W110*
c.330G>A
151 papers
NM_000077.5
p.W110*
c.329G>A
143 papers
NM_000077.5
p.M53I
c.159G>C
141 papers
NM_000077.5
p.M53I
c.159G>A
141 papers
NM_000077.5
p.P114L
c.341C>T
138 papers
NM_000077.5
p.M53I
c.159G>T
130 papers
NM_000077.5
p.R24P
c.71G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."