NUPR1 c.*3417C>G

Variant ID: 16-28545587-G-C

NM_012385.3(NUPR1):c.*3417C>G

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: rs231976
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: rs231976
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Risk variants disrupting enhancers of TH1 and TREG cells in type 1 diabetes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gao, Peng P; Uzun, Yasin Y; He, Bing B; Salamati, Sarah E SE; Coffey, Julie K M JKM; Tsalikian, Eva E; Tan, Kai K
Publication Date: 2019-04-09

Variant appearance in text: rs231976
PubMed Link: 30910956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Lung DNA Methylation Quantitative Trait Loci Colocalize with Chronic Obstructive Pulmonary Disease Genome-Wide Association Loci.

American Journal Of Respiratory And Critical Care Medicine
Morrow, Jarrett D JD; Glass, Kimberly K; Cho, Michael H MH; Hersh, Craig P CP; Pinto-Plata, Victor V; Celli, Bartolome B; Marchetti, Nathaniel N; Criner, Gerard G; Bueno, Raphael R; Washko, George G; Choi, Augustine M K AMK; Quackenbush, John J; Silverman, Edwin K EK; DeMeo, Dawn L DL
Publication Date: 2018-05-15

Variant appearance in text: rs231976
PubMed Link: 29313708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs231976
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
View BVdb publication page