Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.G48R

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
1 paper
NM_078626.3
p.G48R
c.142G>C
Surrounding Variants
1 paper
NM_078626.3
p.G48R
c.142G>A
2 papers
NM_078626.3
p.L47H
c.140T>A
1 paper
NM_078626.3
p.E51D
c.153G>C
1 paper
NM_078626.3
p.E51D
c.153G>T
1 paper
NM_078626.3
p.V44A
c.131T>C
1 paper
NM_078626.3
p.Q43_V44Splc
c.130-1G>A
1 paper
NM_078626.3
p.Q43_V44Splc
c.130-1G>T
1 paper
NM_078626.3
p.Q43_V44Splc
c.130-2A>T
1 paper
NM_078626.3
p.R54R
c.162G>A
1 paper
NM_078626.3
p.R55I
c.164G>T
1 paper
NM_078626.3
p.L57Q
c.170T>A
1 paper
NM_078626.3
p.L58fs
c.172_173fs
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