PRKCQ c.1354-2197T>C

Variant ID: 10-6508563-A-G

NM_006257.3(PRKCQ):c.1354-2197T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs658230
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs658230
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



COPD-dependent effects of genetic variation in key inflammation pathway genes on lung cancer risk.

International Journal Of Cancer
Watza, Donovan D; Lusk, Christine M CM; Dyson, Gregory G; Purrington, Kristen S KS; Wenzlaff, Angela S AS; Neslund-Dudas, Christine C; Soubani, Ayman O AO; Gadgeel, Shirish M SM; Schwartz, Ann G AG
Publication Date: 2020-08-01

Variant appearance in text: rs658230
PubMed Link: 31709530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complex polymorphisms in endocytosis genes suggest alpha-cyclodextrin as a treatment for breast cancer.

Plos One
Wittkowski, Knut M KM; Dadurian, Christina C; Seybold, Martin P MP; Kim, Han Sang HS; Hoshino, Ayuko A; Lyden, David D
Publication Date: 2018

Variant appearance in text: rs658230
PubMed Link: 29965997
Variant Present in the following documents:
  • pone.0199012.s001.pdf
View BVdb publication page



Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy.

Breast Cancer Research : Bcr
Lei, Jieping J; Rudolph, Anja A; Moysich, Kirsten B KB; Rafiq, Sajjad S; Behrens, Sabine S; Goode, Ellen L EL; Pharoah, Paul P D PP; Seibold, Petra P; Fasching, Peter A PA; Andrulis, Irene L IL; Kristensen, Vessela N VN; Couch, Fergus J FJ; Hamann, Ute U; Hooning, Maartje J MJ; Nevanlinna, Heli H; Eilber, Ursula U; Bolla, Manjeet K MK; Dennis, Joe J; Wang, Qin Q; Lindblom, Annika A; Mannermaa, Arto A; Lambrechts, Diether D; García-Closas, Montserrat M; Hall, Per P; Chenevix-Trench, Georgia G; Shah, Mitul M; Luben, Robert R; Haeberle, Lothar L; Ekici, Arif B AB; Beckmann, Matthias W MW; Knight, Julia A JA; Glendon, Gord G; Tchatchou, Sandrine S; Alnæs, Grethe I Grenaker GI; Borresen-Dale, Anne-Lise AL; Nord, Silje S; Olson, Janet E JE; Hallberg, Emily E; Vachon, Celine C; Torres, Diana D; Ulmer, Hans-Ulrich HU; Rüdiger, Thomas T; Jager, Agnes A; van Deurzen, Carolien H M CH; Tilanus-Linthorst, Madeleine M A MM; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Margolin, Sara S; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Kataja, Vesa V; Hatse, Sigrid S; Wildiers, Hans H; Smeets, Ann A; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Li, Jingmei J; Humphreys, Keith K; Phillips, Kelly-Anne KA; , ; Linn, Sabine S; Cornelissen, Sten S; van den Broek, Sandra Alexandra J SA; Kang, Daehee D; Choi, Ji-Yeob JY; Park, Sue K SK; Yoo, Keun-Young KY; Hsiung, Chia-Ni CN; Wu, Pei-Ei PE; Hou, Ming-Feng MF; Shen, Chen-Yang CY; Teo, Soo Hwang SH; Taib, Nur Aishah Mohd NA; Yip, Cheng Har CH; Ho, Gwo Fuang GF; Matsuo, Keitaro K; Ito, Hidemi H; Iwata, Hiroji H; Tajima, Kazuo K; Dunning, Alison M AM; Benitez, Javier J; Czene, Kamila K; Sucheston, Lara E LE; Maishman, Tom T; Tapper, William J WJ; Eccles, Diana D; Easton, Douglas F DF; Schmidt, Marjanka K MK; Chang-Claude, Jenny J
Publication Date: 2015-02-10

Variant appearance in text: rs658230
PubMed Link: 25849327
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_522.pdf
View BVdb publication page