LIPC c.583G>A ;(p.A195T)

Variant ID: 15-58837949-G-A

NM_000236.2(LIPC):c.583G>A;(p.A195T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LIPC: 583G>A; Ala195Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Hypertriglyceridemia Induced Acute Pancreatitis Caused by a Novel LIPC Gene Variant in a Pediatric Patient.

Children (Basel, Switzerland)
Balanescu, Laura L; Cardoneanu, Ancuta A; Stanciu, Gabriel G; Balanescu, Radu R; Minulescu, Cristian C; Pacurar, Daniela D; Moga, Andreea A
Publication Date: 2022-02-02

Variant appearance in text: LIPC: 583G>A; Ala195Thr
PubMed Link: 35204909
Variant Present in the following documents:
  • children-09-00188.pdf
View BVdb publication page