SRSF8

serine and arginine rich splicing factor 8, the group of Serine and arginine rich splicing factors

Basic information

Region (hg38): 11:95066919-95071225

Previous symbols: [ "SFRS2B" ]

Links

ENSG00000263465

∙ NCBI:10929 ∙ OMIM:603269 ∙ HGNC:16988 ∙ Uniprot:Q9BRL6 ∙ 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 SRSF8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRSF8 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			14 clinvar	1 clinvar		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in SRSF8

This is a list of pathogenic ClinVar variants found in the SRSF8 region.

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

Position	Phenotype	Significance	ClinVar
11-95067236-G-A	not specified	Uncertain significance (Jan 23, 2023)	2477474
11-95067261-G-T	not specified	Uncertain significance (Feb 12, 2025)	3801710
11-95067297-G-A	not specified	Uncertain significance (Aug 20, 2024)	3449660
11-95067332-A-G	not specified	Uncertain significance (May 30, 2024)	3322765
11-95067366-G-T	not specified	Uncertain significance (Jan 18, 2025)	2407205
11-95067408-G-A	not specified	Uncertain significance (Jun 10, 2022)	2295332
11-95067422-C-A	not specified	Uncertain significance (May 23, 2023)	2550306
11-95067423-G-A	not specified	Uncertain significance (Aug 28, 2024)	3449662
11-95067432-A-G	not specified	Uncertain significance (Mar 28, 2023)	2530535
11-95067506-C-G	not specified	Uncertain significance (Apr 23, 2024)	3322764
11-95067510-G-A	not specified	Uncertain significance (Sep 13, 2023)	2623735
11-95067527-C-T	not specified	Uncertain significance (Jul 25, 2024)	3449661
11-95067537-A-G	not specified	Uncertain significance (Mar 29, 2022)	2280206
11-95067666-G-T	not specified	Uncertain significance (Aug 30, 2021)	2247306
11-95067675-A-G	not specified	Uncertain significance (Dec 03, 2021)	2263964
11-95067735-A-G	not specified	Likely benign (Oct 29, 2021)	2257879

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in pre-mRNA alternative splicing. {ECO:0000269|PubMed:9671500}.;
Pathway: Spliceosome - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human) (Consensus)

Gene ontology

Biological process: regulation of alternative mRNA splicing, via spliceosome;mRNA cis splicing, via spliceosome
Cellular component: nucleus;cytoplasm;cytosol;nuclear speck
Molecular function: RNA binding;protein binding