| Variant ID | 19357 |
|---|---|
| Entrez Gene ID | 54947 |
| Gene | LPCAT2 (GeneCards) |
| Location | hg19 16:55564753-55564753
hg38 16:55530841-55530841 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.55564753 A>T (Genome Assembly: GRCh37) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6174 |
| CADD Raw score (version 1.3) | 0.967817 (Deleterious) |
| FATHMM raw prediction score | 0.30607 (Tolerated) |
| Deleterious probability by DeFine | 0.552 (Deleterious) |
| Entrez Gene ID | 54947 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LPCAT2 (GeneCards) |
| Number of variants in LPCAT2 in this database | 3 (view all the variants) |
| Full name | lysophosphatidylcholine acyltransferase 2 |
| Band | 16q12.2 |
| Other IDs | Vega: OTTHUMG00000133238 OMIM: 612040 HGNC: HGNC:26032 Ensembl: ENSG00000087253 |
| Other names | AYTL1, AGPAT11, LysoPAFAT |
| Summary | This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |