STK19 c.473+264G>A

Variant ID: 6-31947594-G-A

NM_004197.2(STK19):c.473+264G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs389512
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs389512
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Fine mapping genetic associations between the HLA region and extremely high intelligence.

Scientific Reports
Zabaneh, Delilah D; Krapohl, Eva E; Simpson, Michael A MA; Miller, Mike B MB; Iacono, William G WG; McGue, Matt M; Putallaz, Martha M; Lubinski, David D; Plomin, Robert R; Breen, Gerome G
Publication Date: 2017-01-24

Variant appearance in text: rs389512
PubMed Link: 28117369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.

Arthritis & Rheumatology (Hoboken, N.J.)
Merkel, Peter A PA; Xie, Gang G; Monach, Paul A PA; Ji, Xuemei X; Ciavatta, Dominic J DJ; Byun, Jinyoung J; Pinder, Benjamin D BD; Zhao, Ai A; Zhang, Jinyi J; Tadesse, Yohannes Y; Qian, David D; Weirauch, Matthew M; Nair, Rajan R; Tsoi, Alex A; Pagnoux, Christian C; Carette, Simon S; Chung, Sharon S; Cuthbertson, David D; Davis, John C JC; Dellaripa, Paul F PF; Forbess, Lindsy L; Gewurz-Singer, Ora O; Hoffman, Gary S GS; Khalidi, Nader N; Koening, Curry C; Langford, Carol A CA; Mahr, Alfred D AD; McAlear, Carol C; Moreland, Larry L; Seo, E Philip EP; Specks, Ulrich U; Spiera, Robert F RF; Sreih, Antoine A; St Clair, E William EW; Stone, John H JH; Ytterberg, Steven R SR; Elder, James T JT; Qu, Jia J; Ochi, Toshiki T; Hirano, Naoto N; Edberg, Jeffrey C JC; Falk, Ronald J RJ; Amos, Christopher I CI; Siminovitch, Katherine A KA; ,
Publication Date: 2017-05

Variant appearance in text: rs389512
PubMed Link: 28029757
Variant Present in the following documents:
  • ART-69-1054-s002.pdf
View BVdb publication page



Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: rs389512
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 3
  • NIHMS580846-supplement-1.xlsx, sheet 2
View BVdb publication page



Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways.

Neurobiology Of Aging
Logue, Mark W MW; Schu, Matthew M; Vardarajan, Badri N BN; Farrell, John J; Lunetta, Kathryn L KL; Jun, Gyungah G; Baldwin, Clinton T CT; Deangelis, Margaret M MM; Farrer, Lindsay A LA
Publication Date: 2014-06

Variant appearance in text: rs389512
PubMed Link: 24439028
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.

Plos Genetics
Barcellos, Lisa F LF; May, Suzanne L SL; Ramsay, Patricia P PP; Quach, Hong L HL; Lane, Julie A JA; Nititham, Joanne J; Noble, Janelle A JA; Taylor, Kimberly E KE; Quach, Diana L DL; Chung, Sharon A SA; Kelly, Jennifer A JA; Moser, Kathy L KL; Behrens, Timothy W TW; Seldin, Michael F MF; Thomson, Glenys G; Harley, John B JB; Gaffney, Patrick M PM; Criswell, Lindsey A LA
Publication Date: 2009-10

Variant appearance in text: rs389512
PubMed Link: 19851445
Variant Present in the following documents:
  • Main text
  • pgen.1000696.pdf
View BVdb publication page



Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype.

Diabetes, Obesity & Metabolism
McGinnis, R R; McLaren, W W; Ranganath, V V; Whittaker, P P; Hunt, S S; Deloukas, P P; ,
Publication Date: 2009-02

Variant appearance in text: rs389512
PubMed Link: 19143810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.

American Journal Of Human Genetics
Roach, Jared C JC; Deutsch, Kerry K; Li, Sarah S; Siegel, Andrew F AF; Bekris, Lynn M LM; Einhaus, Derek C DC; Sheridan, Colleen M CM; Glusman, Gustavo G; Hood, Leroy L; Lernmark, Ake A; Janer, Marta M; , ; ,
Publication Date: 2006-10

Variant appearance in text: rs389512
PubMed Link: 16960798
Variant Present in the following documents:
  • Main text
View BVdb publication page