FIGNL2

fidgetin like 2, the group of AAA ATPases

Basic information

Region (hg38): 12:51817899-51848718

Links

ENSG00000261308 ∙ NCBI:401720 ∙ ∙ HGNC:13287 ∙ Uniprot:A6NMB9 ∙ 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 FIGNL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FIGNL2 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in FIGNL2

This is a list of pathogenic ClinVar variants found in the FIGNL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-51820687-C-A		not specified	Uncertain significance (Sep 16, 2021)
12-51820957-G-A		not specified	Uncertain significance (Oct 26, 2021)
12-51821010-C-G		not specified	Uncertain significance (Sep 01, 2021)
12-51821071-T-C		not specified	Uncertain significance (Sep 27, 2021)
12-51821159-G-T		not specified	Uncertain significance (Sep 17, 2021)
12-51821230-G-A		not specified	Uncertain significance (Oct 06, 2021)
12-51821271-C-A		not specified	Uncertain significance (Oct 17, 2024)
12-51821306-C-A		not specified	Uncertain significance (Sep 01, 2021)
12-51821717-G-T		not specified	Uncertain significance (Aug 12, 2021)
12-51821719-G-A		not specified	Uncertain significance (Aug 12, 2021)
12-51821945-C-G		not specified	Uncertain significance (Sep 17, 2021)
12-51822100-G-C		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Fignl2

Gene ontology

• Biological process: regulation of double-strand break repair via homologous recombination;cytoplasmic microtubule organization;microtubule severing
• Cellular component: nucleus
• Molecular function: ATP binding;microtubule-severing ATPase activity;ATPase activity