HLA-DRA c.55_56delinsGC ;(p.S19A)

Variant ID: 6-32407782-AG-GC

NM_019111.4(HLA-DRA):c.55_56delinsGC;(p.S19A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A reference tissue atlas for the human kidney.

Science Advances
Hansen, Jens J; Sealfon, Rachel R; Menon, Rajasree R; Eadon, Michael T MT; Lake, Blue B BB; Steck, Becky B; Anjani, Kavya K; Parikh, Samir S; Sigdel, Tara K TK; Zhang, Guanshi G; Velickovic, Dusan D; Barwinska, Daria D; Alexandrov, Theodore T; Dobi, Dejan D; Rashmi, Priyanka P; Otto, Edgar A EA; Rivera, Miguel M; Rose, Michael P MP; Anderton, Christopher R CR; Shapiro, John P JP; Pamreddy, Annapurna A; Winfree, Seth S; Xiong, Yuguang Y; He, Yongqun Y; de Boer, Ian H IH; Hodgin, Jeffrey B JB; Barisoni, Laura L; Naik, Abhijit S AS; Sharma, Kumar K; Sarwal, Minnie M MM; Zhang, Kun K; Himmelfarb, Jonathan J; Rovin, Brad B; El-Achkar, Tarek M TM; Laszik, Zoltan Z; He, John Cijiang JC; Dagher, Pierre C PC; Valerius, M Todd MT; Jain, Sanjay S; Satlin, Lisa M LM; Troyanskaya, Olga G OG; Kretzler, Matthias M; Iyengar, Ravi R; Azeloglu, Evren U EU; ,
Publication Date: 2022-06-10

Variant appearance in text: HLA-DRA: S19A
PubMed Link: 35675394
Variant Present in the following documents:
  • Main text
  • sciadv.abn4965.pdf
View BVdb publication page



Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.

Nature Genetics
Ebler, Jana J; Ebert, Peter P; Clarke, Wayne E WE; Rausch, Tobias T; Audano, Peter A PA; Houwaart, Torsten T; Mao, Yafei Y; Korbel, Jan O JO; Eichler, Evan E EE; Zody, Michael C MC; Dilthey, Alexander T AT; Marschall, Tobias T
Publication Date: 2022-04

Variant appearance in text: HLA-DRA: S19a
PubMed Link: 35410384
Variant Present in the following documents:
  • 41588_2022_1043_MOESM3_ESM.pdf
View BVdb publication page



G-CSF secreted by mutant IDH1 glioma stem cells abolishes myeloid cell immunosuppression and enhances the efficacy of immunotherapy.

Science Advances
Alghamri, Mahmoud S MS; McClellan, Brandon L BL; Avvari, Ruthvik P RP; Thalla, Rohit R; Carney, Stephen S; Hartlage, Carson S CS; Haase, Santiago S; Ventosa, Maria M; Taher, Ayman A; Kamran, Neha N; Zhang, Li L; Faisal, Syed Mohd SM; Núñez, Felipe J FJ; Garcia-Fabiani, María Belén MB; Al-Holou, Wajd N WN; Orringer, Daniel D; Hervey-Jumper, Shawn S; Heth, Jason J; Patil, Parag G PG; Eddy, Karen K; Merajver, Sofia D SD; Ulintz, Peter J PJ; Welch, Joshua J; Gao, Chao C; Liu, Jialin J; Núñez, Gabriel G; Hambardzumyan, Dolores D; Lowenstein, Pedro R PR; Castro, Maria G MG
Publication Date: 2021-10

Variant appearance in text: HLA-DRA: S19A
PubMed Link: 34586841
Variant Present in the following documents:
  • Main text
  • sciadv.abh3243.pdf
View BVdb publication page



G-CSF secreted by mutant IDH1 glioma stem cells abolishes myeloid cell immunosuppression and enhances the efficacy of immunotherapy.

Science Advances
Alghamri, Mahmoud S MS; McClellan, Brandon L BL; Avvari, Ruthvik P RP; Thalla, Rohit R; Carney, Stephen S; Hartlage, Margaret S MS; Haase, Santiago S; Ventosa, Maria M; Taher, Ayman A; Kamran, Neha N; Zhang, Li L; Faisal, Syed Mohd SM; Núñez, Felipe J FJ; Garcia-Fabiani, María Belén MB; Al-Holou, Wajd N WN; Orringer, Daniel D; Hervey-Jumper, Shawn S; Heth, Jason J; Patil, Parag G PG; Eddy, Karen K; Merajver, Sofia D SD; Ulintz, Peter J PJ; Welch, Joshua J; Gao, Chao C; Liu, Jialin J; Núñez, Gabriel G; Hambardzumyan, Dolores D; Lowenstein, Pedro R PR; Castro, Maria G MG
Publication Date: 2021-10

Variant appearance in text: HLA-DRA: S19A
PubMed Link: 34586841
Variant Present in the following documents:
  • Main text
  • sciadv.abh3243.pdf
View BVdb publication page



Spatiotemporal immune zonation of the human kidney.

Science (New York, N.Y.)
Stewart, Benjamin J BJ; Ferdinand, John R JR; Young, Matthew D MD; Mitchell, Thomas J TJ; Loudon, Kevin W KW; Riding, Alexandra M AM; Richoz, Nathan N; Frazer, Gordon L GL; Staniforth, Joy U L JUL; Vieira Braga, Felipe A FA; Botting, Rachel A RA; Popescu, Dorin-Mirel DM; Vento-Tormo, Roser R; Stephenson, Emily E; Cagan, Alex A; Farndon, Sarah J SJ; Polanski, Krzysztof K; Efremova, Mirjana M; Green, Kile K; Del Castillo Velasco-Herrera, Martin M; Guzzo, Charlotte C; Collord, Grace G; Mamanova, Lira L; Aho, Tevita T; Armitage, James N JN; Riddick, Antony C P ACP; Mushtaq, Imran I; Farrell, Stephen S; Rampling, Dyanne D; Nicholson, James J; Filby, Andrew A; Burge, Johanna J; Lisgo, Steven S; Lindsay, Susan S; Bajenoff, Marc M; Warren, Anne Y AY; Stewart, Grant D GD; Sebire, Neil N; Coleman, Nicholas N; Haniffa, Muzlifah M; Teichmann, Sarah A SA; Behjati, Sam S; Clatworthy, Menna R MR
Publication Date: 2019-09-27

Variant appearance in text: HLA-DRA: S19A
PubMed Link: 31604275
Variant Present in the following documents:
  • Main text
View BVdb publication page