Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2D

CDKN2D

211 papers

RefSeq Summary

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activatio...

Pfam Domains

Ank_2aa 12–104UCSCAnkyrin repeats (3 copies)
Ank_2aa 102–164UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 2D

HGNC Alias Symbols

INK4D; p19

Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
5 papers
NM_001800.4
p.A57V
c.170C>T
2 papers
NM_001800.4
p.L27F
c.79C>T
2 papers
NM_001800.4
p.P67L
c.200C>T
2 papers
NM_001800.4
p.V78I
c.232G>A
2 papers
NM_001800.4
p.L109R
c.326T>G
1 paper
NM_001800.4
p.M1_L2insFs
c.3_4insA
1 paper
NM_001800.4
p.L2L
c.4C>T
1 paper
NM_001800.4
p.E4E
c.12G>A
1 paper
NM_001800.4
p.E5*
c.13G>T
1 paper
NM_001800.4
p.E5Q
c.13G>C
1 paper
NM_001800.4
p.G9R
c.25G>C
1 paper
NM_001800.4
p.G9S
c.25G>A
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."