×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
28374925
2018
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
26954065
2016
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
26173930
2015
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Pfam: the protein families database.
24288371
2014
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
24501764
2014
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.
24990929
2014
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Activities at the Universal Protein Resource (UniProt).
24253303
2014
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
23455423
2013
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
21800092
2012
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.
22102872
2011
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The NCBI BioSystems database.
19854944
2010
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
20116073
2010
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.
19170760
2009
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The Human Gene Mutation Database: 2008 update.
19348700
2009
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.
18054780
2008
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.
16488668
2006
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
hnRNP K: one protein multiple processes.
15170860
2004
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.
15364910
2004
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Nonsense-mediated decay approaches the clinic.
15284851
2004
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.
12853611
2003
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.
11891683
2002
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.
12183465
2002
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.
11867641
2002
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.
11574481
2001
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.
10995551
2000