Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.H48N

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.H48N
c.142C>A
Surrounding Variants
1 paper
NM_004064.5
p.H48fs
c.142_143fs
1 paper
NM_004064.5
p.C49_M52del4
c.145_155del12
1 paper
NM_004064.5
p.E46A
c.137A>C
1 paper
NM_004064.5
p.E46G
c.137A>G
1 paper
NM_004064.5
p.C49W
c.147C>G
1 paper
NM_004064.5
p.D51delFs
c.151_152delGA
1 paper
NM_004064.5
p.R50fs
c.148_149fs
1 paper
NM_004064.5
p.R50*
c.148A>T
2 papers
NM_004064.5
p.E46*
c.136G>T
1 paper
NM_004064.5
p.L45L
c.135G>A
1 paper
NM_004064.5
p.R50delFs
c.150delA
2 papers
NM_004064.5
p.L45_H48del0
c.135_143del9
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