Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.S2L

CDKN1B

800 papers

RefSeq Summary

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyc...

Pfam Domains

CDIaa 31–79UCSCCyclin-dependent kinase inhibitor

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 1B

HGNC Alias Symbols

KIP1; P27KIP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004064.5
p.S2L
c.5C>T
Surrounding Variants
2 papers
NM_004064.5
p.S2*
c.5C>A
3 papers
NM_004064.5
p.S2*
c.5C>G
1 paper
NM_004064.5
p.N3D
c.7A>G
3 papers
NM_004064.5
p.M1I
c.3G>A
3 papers
NM_004064.5
p.M1I
c.3G>C
3 papers
NM_004064.5
p.M1I
c.3G>T
1 paper
NM_004064.5
p.M1V
c.1A>G
3 papers
NM_004064.5
p.V4V
c.12G>A
1 paper
NM_004064.5
p.V4V
c.12G>C
1 paper
NM_004064.5
p.R5_V6insFs
c.15_16dupAG
3 papers
NM_004064.5
p.R5*
c.13C>T
1 paper
NM_004064.5
p.V6fs
c.16_17fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."