Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2B
Variant:p.V117M

CDKN2B

718 papers

RefSeq Summary

This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which...

Pfam Domains

Ank_2aa 18–110UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 2B

HGNC Alias Symbols

P15; MTS2; INK4B; TP15; CDK4I; p15INK4b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004936.4
p.V117M
c.349G>A
Surrounding Variants
1 paper
NM_004936.4
p.L115delFs
c.344delA
1 paper
NM_004936.4
p.L115Q
c.344T>A
1 paper
NM_004936.4
p.L115fs
c.343_344fs
2 papers
NM_004936.4
p.R114C
c.340C>T
1 paper
NM_004936.4
p.G113G
c.339T>A
1 paper
NM_004936.4
p.A120V
c.359C>T
2 papers
NM_004936.4
p.A120delFs
c.358delC
2 papers
NM_004936.4
p.A120A
c.360C>T
1 paper
NM_004936.4
p.E121K
c.361G>A
1 paper
NM_004936.4
p.G113S
c.337G>A
1 paper
NM_004936.4
p.W112*
c.336G>A
1 paper
NM_004936.4
p.E121D
c.363G>C
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