Overview

Variant ID 22880
Entrez Gene ID 7006
Gene TEC (GeneCards)
Location hg19 4:48296333-48296333
hg38 4:48294316-48294316
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000004.11:g.48296333 C>G (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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0665
CADD Raw score (version 1.3) 0.432166 (Deleterious)
FATHMM raw prediction score 0.11128 (Tolerated)
Deleterious probability by DeFine 0.2798 (Neutral)
Entrez Gene ID 7006 (NCBI Gene)
Official Gene Symbol TEC (GeneCards)
Number of variants in TEC in this database 3 (view all the variants)
Full name tec protein tyrosine kinase
Band 4p12-p11
Other IDs Vega: OTTHUMG00000128623
OMIM: 600583
HGNC: HGNC:11719
Ensembl: ENSG00000135605
Other names PSCTK4
Summary The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;