JAG1 c.550C>T ;(p.R184C)

Variant ID: 20-10639260-G-A

NM_000214.2(JAG1):c.550C>T;(p.R184C)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Premature senescence of the liver in Alagille patients.

Plos One
Jannone, Giulia G; de Magnée, Catherine C; Tambucci, Roberto R; Evraerts, Jonathan J; Ravau, Joachim J; Najimi, Mustapha M; Sokal, Etienne Marc EM
Publication Date: 2023

Variant appearance in text: JAG1: 550C>T; Arg184Cys
PubMed Link: 37099537
Variant Present in the following documents:
  • Main text
  • pone.0285019.pdf
View BVdb publication page



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: JAG1: 550C>T; Arg184Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases.

Computational And Structural Biotechnology Journal
Li, Bin B; Wang, Zheng Z; Chen, Qian Q; Li, Kuokuo K; Wang, Xiaomeng X; Wang, Yijing Y; Zeng, Qian Q; Han, Ying Y; Lu, Bin B; Zhao, Yuwen Y; Zhang, Rui R; Jiang, Li L; Pan, Hongxu H; Luo, Tengfei T; Zhang, Yi Y; Fang, Zhenghuan Z; Xiao, Xuewen X; Zhou, Xun X; Wang, Rui R; Zhou, Lu L; Wang, Yige Y; Yuan, Zhenhua Z; Xia, Lu L; Guo, Jifeng J; Tang, Beisha B; Xia, Kun K; Zhao, Guihu G; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: JAG1: R184C
PubMed Link: 33868597
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation
Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB
Publication Date: 2019-12

Variant appearance in text: JAG1: 550C>T; Arg184Cys
PubMed Link: 31343788
Variant Present in the following documents:
  • Main text
  • HUMU-40-2197-s001.pdf
  • HUMU-40-2197.pdf
View BVdb publication page



PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM
Publication Date: 2019-12

Variant appearance in text: JAG1: 550C>T
PubMed Link: 31164752
Variant Present in the following documents:
  • 41436_2019_566_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: JAG1: R184C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

Plos One
Li, Liting L; Dong, Jibin J; Wang, Xiaohong X; Guo, Hongmei H; Wang, Huijun H; Zhao, Jing J; Qiu, Yiling Y; Abuduxikuer, Kuerbanjiang K; Wang, Jianshe J
Publication Date: 2015

Variant appearance in text: JAG1: 550C>T; R184C
PubMed Link: 26076142
Variant Present in the following documents:
  • Main text
  • pone.0130355.pdf
View BVdb publication page