SELL c.1100+44A>G

Variant ID: 1-169665632-T-C

NM_000655.5(SELL):c.1100+44A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: SELL: 1139+44A>G; rs2223286
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2223286
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2223286
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Blood group antigen loci demonstrate multivariate genetic associations with circulating cellular adhesion protein levels in the Multi-Ethnic Study of Atherosclerosis.

Human Genetics
Larson, Nicholas B NB; Decker, Paul A PA; Wassel, Christina L CL; Pankow, James S JS; Tang, Weihong W; Hanson, Naomi Q NQ; Tsai, Michael Y MY; Bielinski, Suzette J SJ
Publication Date: 2016-04

Variant appearance in text: rs2223286
PubMed Link: 26883866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2223286
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genetics of gene expression in immunity to infection.

Current Opinion In Immunology
Fairfax, Benjamin P BP; Knight, Julian C JC
Publication Date: 2014-10

Variant appearance in text: rs2223286
PubMed Link: 25078545
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.

Nature Genetics
Fairfax, Benjamin P BP; Makino, Seiko S; Radhakrishnan, Jayachandran J; Plant, Katharine K; Leslie, Stephen S; Dilthey, Alexander A; Ellis, Peter P; Langford, Cordelia C; Vannberg, Fredrik O FO; Knight, Julian C JC
Publication Date: 2012-03-25

Variant appearance in text: rs2223286
PubMed Link: 22446964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of variants in the selectin genes in age-related macular degeneration.

Bmc Medical Genetics
Mullins, Robert F RF; Skeie, Jessica M JM; Folk, James C JC; Solivan-Timpe, Frances M FM; Oetting, Thomas A TA; Huang, Jian J; Wang, Kai K; Stone, Edwin M EM; Fingert, John H JH
Publication Date: 2011-04-26

Variant appearance in text: rs2223286
PubMed Link: 21521525
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-58.pdf
View BVdb publication page