Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.Q104fs

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
1 paper
NM_004064.5
p.Q104fs
c.310_311fs
Surrounding Variants
2 papers
NM_004064.5
p.Q104fs
c.310_311fs
1 paper
NM_004064.5
p.Q104insFs
c.310_311insT
4 papers
NM_004064.5
p.Q104*
c.310C>T
1 paper
NM_004064.5
p.A103P
c.307G>C
1 paper
NM_004064.5
p.E105insFs
c.313_314insC
5 papers
NM_004064.5
p.E105*
c.313G>T
1 paper
NM_004064.5
p.A103delFs
c.308delC
1 paper
NM_004064.5
p.P102P
c.306G>T
2 papers
NM_004064.5
p.E105E
c.315G>A
1 paper
NM_004064.5
p.P102T
c.304C>A
2 papers
NM_004064.5
p.P102fs
c.304_305fs
1 paper
NM_004064.5
p.P102S
c.304C>T
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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."