HBQ1 c.93A>G ;(p.E31=)

Variant ID: 16-230578-A-G

NM_005331.4(HBQ1):c.93A>G;(p.E31=)

This variant was identified in 10 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: HBQ1: E31E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: HBQ1: E31E
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α 3.7I form of α-thalassaemia using genome-wide microarray data.

Wellcome Open Research
Ndila, Carolyne M CM; Nyirongo, Vysaul V; Macharia, Alexander W AW; Jeffreys, Anna E AE; Rowlands, Kate K; Hubbart, Christina C; Busby, George B J GBJ; Band, Gavin G; Harding, Rosalind M RM; Rockett, Kirk A KA; Williams, Thomas N TN; ,
Publication Date: 2020

Variant appearance in text: rs11863726
PubMed Link: 34632085
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-18983.pdf
View BVdb publication page



Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α 3.7I form of α-thalassaemia using genome-wide microarray data.

Wellcome Open Research
Ndila, Carolyne M CM; Nyirongo, Vysaul V; Macharia, Alexander W AW; Jeffreys, Anna E AE; Rowlands, Kate K; Hubbart, Christina C; Busby, George B J GBJ; Band, Gavin G; Harding, Rosalind M RM; Rockett, Kirk A KA; Williams, Thomas N TN; ,
Publication Date: 2020

Variant appearance in text: rs11863726
PubMed Link: 34632085
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-18983.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs11863726
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: HBQ1: E31E; rs11863726
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



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HBQ1: 93A>G; Glu31Glu; rs11863726
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.

Genes
Barbitoff, Yury A YA; Serebryakova, Elena A EA; Nasykhova, Yulia A YA; Predeus, Alexander V AV; Polev, Dmitrii E DE; Shuvalova, Anna R AR; Vasiliev, Evgenii V EV; Urazov, Stanislav P SP; Sarana, Andrey M AM; Scherbak, Sergey G SG; Gladyshev, Dmitrii V DV; Pokrovskaya, Maria S MS; Sivakova, Oksana V OV; Meshkov, Aleksey N AN; Drapkina, Oxana M OM; Glotov, Oleg S OS; Glotov, Andrey S AS
Publication Date: 2018-08-17

Variant appearance in text: rs11863726
PubMed Link: 30126146
Variant Present in the following documents:
  • Main text
  • genes-09-00415.pdf
View BVdb publication page



Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
Publication Date: 2017-12-01

Variant appearance in text: HBQ1: E31E
PubMed Link: 29285300
Variant Present in the following documents:
  • oncotarget-08-105882-s002.xlsx, sheet 1
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: HBQ1: E31E; rs11863726
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

American Journal Of Human Genetics
Auer, Paul L PL; Johnsen, Jill M JM; Johnson, Andrew D AD; Logsdon, Benjamin A BA; Lange, Leslie A LA; Nalls, Michael A MA; Zhang, Guosheng G; Franceschini, Nora N; Fox, Keolu K; Lange, Ethan M EM; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Jackson, Rebecca D RD; Wallace, Robert B RB; Chen, Zhao Z; Graubert, Timothy A TA; Wilson, James G JG; Tang, Hua H; Lettre, Guillaume G; Reiner, Alex P AP; Ganesh, Santhi K SK; Li, Yun Y
Publication Date: 2012-11-02

Variant appearance in text: HBQ1: 93A>G; rs11863726
PubMed Link: 23103231
Variant Present in the following documents:
  • Main text
View BVdb publication page