HR c.1538A>G ;(p.H513R)

Variant ID: 8-21983113-T-C

NM_005144.4(HR):c.1538A>G;(p.H513R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The structural basis of endocannabinoid oxygenation by cyclooxygenase-2.

The Journal Of Biological Chemistry
Vecchio, Alex J AJ; Malkowski, Michael G MG
Publication Date: 2011-06-10

Variant appearance in text: HR: H513R
PubMed Link: 21489986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Journal Of Medical Genetics
Doherty, D D; Parisi, M A MA; Finn, L S LS; Gunay-Aygun, M M; Al-Mateen, M M; Bates, D D; Clericuzio, C C; Demir, H H; Dorschner, M M; van Essen, A J AJ; Gahl, W A WA; Gentile, M M; Gorden, N T NT; Hikida, A A; Knutzen, D D; Ozyurek, H H; Phelps, I I; Rosenthal, P P; Verloes, A A; Weigand, H H; Chance, P F PF; Dobyns, W B WB; Glass, I A IA
Publication Date: 2010-01

Variant appearance in text: HR: 1538A>G
PubMed Link: 19574260
Variant Present in the following documents:
  • Main text
View BVdb publication page