Overview

Variant ID 14645
Entrez Gene ID 2869
Gene GRK5 (GeneCards)
Location hg19 10:121001467-121001467
hg38 10:119241955-119241955
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000010.10:g.121001467 G>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 135534747

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) 0.345384 (Deleterious)
FATHMM raw prediction score 0.09239 (Tolerated)
Deleterious probability by DeFine 0.4288 (Neutral)
Entrez Gene ID 2869 (NCBI Gene)
Official Gene Symbol GRK5 (GeneCards)
Number of variants in GRK5 in this database 4 (view all the variants)
Full name G protein-coupled receptor kinase 5
Band 10q26.11
Other IDs Vega: OTTHUMG00000019149
OMIM: 600870
HGNC: HGNC:4544
Ensembl: ENSG00000198873
Other names GPRK5
Summary This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.15 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;