Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2D
Variant:p.V122A

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.V122A
c.365T>C
Surrounding Variants
1 paper
NM_001800.4
p.V123A
c.368T>C
1 paper
NM_001800.4
p.A121S
c.361G>T
1 paper
NM_001800.4
p.A127S
c.379G>T
1 paper
NM_001800.4
p.L132L
c.396C>G
1 paper
NM_001800.4
p.H133N
c.397C>A
1 paper
NM_001800.4
p.P110L
c.329C>T
2 papers
NM_001800.4
p.L109R
c.326T>G
1 paper
NM_001800.4
p.R138R
c.414G>A
1 paper
NM_001800.4
p.G105_T106insFs
c.315_316insA
1 paper
NM_001800.4
p.T141A
c.421A>G
1 paper
NM_001800.4
p.P142S
c.424C>T
1 paper
NM_001800.4
p.V102M
c.304G>A
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