GenTIGS

Cilia and flagella associated protein 300 (CFAP300) Associated conditions:

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 114 reference articles

Variant Information Cilia and flagella associated protein 300 (CFAP300) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Cilia and flagella associated protein 300 (CFAP300)

ClinVar variants:Revealing mutagenic patterns

GO Term of Cilia and flagella associated protein 300 (CFAP300)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	29727692
2	Homo sapiens	ISS	located_in	cytoplasm	Component	-
3	Homo sapiens	IEA	located_in	cytoskeleton	Component	-
4	Homo sapiens	ISS	located_in	motile cilium	Component	-