Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.E19A

CDKN2C

276 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 interact with CDK4 or CDK6, and prevent the activation of the CDK ...

Pfam Domains

Ank_2aa 9–100UCSCAnkyrin repeats (3 copies)
Ank_2aa 74–166UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 2C

HGNC Alias Symbols

INK4C; p18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_078626.3
p.E19A
c.56A>C
Surrounding Variants
1 paper
NM_078626.3
p.E19D
c.57G>C
1 paper
NM_078626.3
p.E19D
c.57G>T
1 paper
NM_078626.3
p.E19del1
c.55_56delGAG
1 paper
NM_078626.3
p.Q20_Q26insFs
c.59_77dup19
1 paper
NM_078626.3
p.Q20E
c.58C>G
1 paper
NM_078626.3
p.L21fs
c.61_62fs
2 papers
NM_078626.3
p.L21H
c.62T>A
1 paper
NM_078626.3
p.D17N
c.49G>A
1 paper
NM_078626.3
p.D17fs
c.49_50fs
1 paper
NM_078626.3
p.T22insFs
c.64_65insA
1 paper
NM_078626.3
p.T22_S23delFs
c.64_67del4
1 paper
NM_078626.3
p.T22fs
c.64_65fs
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