HLA-DRB5 c.115C>T ;(p.Q39*)

Variant ID: 6-32489937-G-A

NM_002125.3(HLA-DRB5):c.115C>T;(p.Q39*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: HLA-DRB5: Q39*
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy
Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F
Publication Date: 2022-01-03

Variant appearance in text: HLA-DRB5: 115C>T; Gln39*; rs200071340
PubMed Link: 34980881
Variant Present in the following documents:
  • 41392_2021_710_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy
Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F
Publication Date: 2022-01-03

Variant appearance in text: HLA-DRB5: 115C>T; Gln39*; rs200071340
PubMed Link: 34980881
Variant Present in the following documents:
  • 41392_2021_710_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02

Variant appearance in text: HLA-DRB5: 115C>T; Gln39Ter
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: HLA-DRB5: Q39X; rs200071340
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page