COL3A1 c.145C>G ;(p.P49A)

Variant ID: 2-189849551-C-G

NM_000090.3(COL3A1):c.145C>G;(p.P49A)

This variant was identified in 3 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: COL3A1: 145C>G; Pro49Ala
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Procollagen type III amino-terminal propeptide and insulin-like growth factor I as biomarkers of growth hormone administration.

Drug Testing And Analysis
Cowan, David A DA; Moncrieffe, Danielle A DA
Publication Date: 2022-05

Variant appearance in text: rs1234344050
PubMed Link: 34418311
Variant Present in the following documents:
  • Main text
  • DTA-14-808.pdf
View BVdb publication page



Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Gene
Kuivaniemi, Helena H; Tromp, Gerard G
Publication Date: 2019-07-30

Variant appearance in text: COL3A1: Pro49Ala
PubMed Link: 31075413
Variant Present in the following documents:
  • Main text
View BVdb publication page