Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2D
Variant:p.L2L

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
Selected Variant
1 paper
NM_001800.4
p.L2L
c.4C>T
Surrounding Variants
1 paper
NM_001800.4
p.M1_L2insFs
c.3_4insA
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
1 paper
NM_001800.4
p.D10E
c.30C>A
1 paper
NM_001800.4
p.A15_A16delFs
c.43_46del4
1 paper
NM_001800.4
p.A17_R18insFs
c.51_52insC
1 paper
NM_001800.4
p.G19D
c.56G>A
1 paper
NM_001800.4
p.V24G
c.71T>G
1 paper
NM_001800.4
p.D20_R26insFs
c.59_77dup19
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