Overview

Variant ID 24786
Entrez Gene ID 55704
Gene CCDC88A (GeneCards)
Location hg19 2:55627300-55627300
hg38 2:55400164-55400164
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000002.11:g.55627300 C>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0377
CADD Raw score (version 1.3) 0.074461 (Deleterious)
FATHMM raw prediction score 0.21266 (Tolerated)
Deleterious probability by DeFine 0.751 (Deleterious)
Entrez Gene ID 55704 (NCBI Gene)
Official Gene Symbol CCDC88A (GeneCards)
Number of variants in CCDC88A in this database 5 (view all the variants)
Full name coiled-coil domain containing 88A
Band 2p16.1
Other IDs Vega: OTTHUMG00000151915
OMIM: 609736
HGNC: HGNC:25523
Ensembl: ENSG00000115355
Other names APE, GIV, GRDN, PEHO, HkRP1, PEHOL, GIRDIN, KIAA1212
Summary This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID