HLA-B c.361A>T ;(p.S121C)

Variant ID: 6-31324202-T-A

NM_005514.6(HLA-B):c.361A>T;(p.S121C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: HLA-B: S121C
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022

Variant appearance in text: HLA-B: 361A>T; Ser121Cys; rs41556417
PubMed Link: 36155654
Variant Present in the following documents:
  • pone.0275121.s001.xlsx, sheet 16
  • pone.0275121.s002.xlsx, sheet 17
  • pone.0275121.s002.xlsx, sheet 4
View BVdb publication page



Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.

Hgg Advances
Stuart, Philip E PE; Tsoi, Lam C LC; Nair, Rajan P RP; Ghosh, Manju M; Kabra, Madhulika M; Shaiq, Pakeeza A PA; Raja, Ghazala K GK; Qamar, Raheel R; Thelma, B K BK; Patrick, Matthew T MT; Parihar, Anita A; Singh, Sonam S; Khandpur, Sujay S; Kumar, Uma U; Wittig, Michael M; Degenhardt, Frauke F; Tejasvi, Trilokraj T; Voorhees, John J JJ; Weidinger, Stephan S; Franke, Andre A; Abecasis, Goncalo R GR; Sharma, Vinod K VK; Elder, James T JT
Publication Date: 2022-01-13

Variant appearance in text: rs41556417
PubMed Link: 34927100
Variant Present in the following documents:
  • mmc3.pdf
  • mmc1.pdf
View BVdb publication page



MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology
Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2021

Variant appearance in text: rs41556417
PubMed Link: 34650566
Variant Present in the following documents:
  • Table_3.xlsx, sheet 4
  • Table_3.xlsx, sheet 5
  • Table_3.xlsx, sheet 3
  • Table_3.xlsx, sheet 1
  • Table_3.xlsx, sheet 2
View BVdb publication page



Identification of deleterious and regulatory genomic variations in known asthma loci.

Respiratory Research
Neville, Matthew D C MDC; Choi, Jihoon J; Lieberman, Jonathan J; Duan, Qing Ling QL
Publication Date: 2018-12-12

Variant appearance in text: rs41556417
PubMed Link: 30541564
Variant Present in the following documents:
  • Main text
  • 12931_2018_Article_953.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: HLA-B: S121C; rs41556417
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.

Nature Communications
Cortes, Adrian A; Pulit, Sara L SL; Leo, Paul J PJ; Pointon, Jenny J JJ; Robinson, Philip C PC; Weisman, Michael H MH; Ward, Michael M; Gensler, Lianne S LS; Zhou, Xiaodong X; Garchon, Henri-Jean HJ; Chiocchia, Gilles G; Nossent, Johannes J; Lie, Benedicte A BA; Førre, Øystein Ø; Tuomilehto, Jaakko J; Laiho, Kari K; Bradbury, Linda A LA; Elewaut, Dirk D; Burgos-Vargas, Ruben R; Stebbings, Simon S; Appleton, Louise L; Farrah, Claire C; Lau, Jonathan J; Haroon, Nigil N; Mulero, Juan J; Blanco, Francisco J FJ; Gonzalez-Gay, Miguel A MA; Lopez-Larrea, C C; Bowness, Paul P; Gaffney, Karl K; Gaston, Hill H; Gladman, Dafna D DD; Rahman, Proton P; Maksymowych, Walter P WP; Crusius, J Bart A JB; van der Horst-Bruinsma, Irene E IE; Valle-Oñate, Raphael R; Romero-Sánchez, Consuelo C; Hansen, Inger Myrnes IM; Pimentel-Santos, Fernando M FM; Inman, Robert D RD; Martin, Javier J; Breban, Maxime M; Wordsworth, Bryan Paul BP; Reveille, John D JD; Evans, David M DM; de Bakker, Paul I W PI; Brown, Matthew A MA
Publication Date: 2015-05-21

Variant appearance in text: rs41556417
PubMed Link: 25994336
Variant Present in the following documents:
  • ncomms8146.pdf
View BVdb publication page