Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.E78insFs

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.E78insFs
c.233_234insGG
Surrounding Variants
1 paper
NM_004064.5
p.E78G
c.233A>G
2 papers
NM_004064.5
p.E78K
c.232G>A
1 paper
NM_004064.5
p.E78*
c.232G>T
1 paper
NM_004064.5
p.Q77Q
c.231A>G
2 papers
NM_004064.5
p.V79fs
c.235_236fs
2 papers
NM_004064.5
p.V79G
c.236T>G
1 paper
NM_004064.5
p.V79delFs
c.237delG
1 paper
NM_004064.5
p.E80_K81del2
c.238_242del6
3 papers
NM_004064.5
p.Q77*
c.229C>T
33 papers
NM_004064.5
p.W76*
c.228G>A
1 paper
NM_004064.5
p.E80K
c.238G>A
2 papers
NM_004064.5
p.E80Q
c.238G>C
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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."