Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2B
Variant:p.G124D

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.G124D
c.371G>A
Surrounding Variants
1 paper
NM_004936.4
p.G124R
c.370G>C
1 paper
NM_004936.4
p.R123R
c.369G>T
1 paper
NM_004936.4
p.H125N
c.373C>A
1 paper
NM_004936.4
p.R123L
c.368G>T
1 paper
NM_004936.4
p.R123P
c.368G>C
1 paper
NM_004936.4
p.R123W
c.367C>T
1 paper
NM_004936.4
p.E121D
c.363G>C
1 paper
NM_004936.4
p.E121K
c.361G>A
2 papers
NM_004936.4
p.A120A
c.360C>T
1 paper
NM_004936.4
p.A120V
c.359C>T
2 papers
NM_004936.4
p.A120delFs
c.358delC
1 paper
NM_004936.4
p.A129P
c.385G>C
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