HNRNPCL2

heterogeneous nuclear ribonucleoprotein C like 2

Basic information

Region (hg38): 1:13115488-13116854

Previous symbols: [ "HNRNPCP5" ]

Links

ENSG00000275774 ∙ NCBI:440563 ∙ ∙ HGNC:48813 ∙ Uniprot:B2RXH8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HNRNPCL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPCL2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			29	2		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	2	0

Variants in HNRNPCL2

This is a list of pathogenic ClinVar variants found in the HNRNPCL2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-13115628-T-A		not specified	Uncertain significance (Jan 24, 2023)
1-13115635-C-T		not specified	Uncertain significance (May 27, 2022)
1-13115640-A-T		not specified	Uncertain significance (Aug 08, 2023)
1-13115647-C-A		not specified	Uncertain significance (Nov 26, 2024)
1-13115664-T-C		not specified	Likely benign (Dec 05, 2022)
1-13115677-C-G		not specified	Uncertain significance (Nov 08, 2022)
1-13115705-A-T		not specified	Uncertain significance (Apr 29, 2024)
1-13115737-C-T		not specified	Uncertain significance (Mar 20, 2024)
1-13115743-A-T		not specified	Uncertain significance (Oct 26, 2022)
1-13115800-G-T		not specified	Uncertain significance (Dec 10, 2024)
1-13115820-A-T		not specified	Uncertain significance (Jun 02, 2024)
1-13115849-C-G		not specified	Uncertain significance (Jun 30, 2024)
1-13115871-C-A		not specified	Uncertain significance (Jan 31, 2025)
1-13115890-T-G		not specified	Uncertain significance (Sep 09, 2024)
1-13115916-G-T		not specified	Uncertain significance (May 26, 2024)
1-13115973-G-A		not specified	Uncertain significance (Nov 24, 2024)
1-13115995-T-G		not specified	Uncertain significance (Mar 18, 2024)
1-13116009-G-A		not specified	Uncertain significance (Jul 02, 2024)
1-13116052-G-A		not specified	Uncertain significance (Dec 12, 2023)
1-13116063-T-C		not specified	Uncertain significance (Mar 23, 2022)
1-13116073-C-A		not specified	Uncertain significance (Nov 15, 2021)
1-13116079-A-G		not specified	Uncertain significance (Mar 12, 2024)
1-13116081-G-A		not specified	Uncertain significance (Apr 12, 2023)
1-13116087-T-C		not specified	Uncertain significance (Dec 22, 2024)
1-13116095-C-T			Likely benign (Feb 01, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs. {ECO:0000250}.

Gene ontology

• Cellular component: nucleus
• Molecular function: RNA binding