HLA-DRA c.46G>C ;(p.V16L)

Variant ID: 6-32407773-G-C

NM_019111.4(HLA-DRA):c.46G>C;(p.V16L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: HLA-DRA: 46G>C; V16L; rs16822586
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.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: HLA-DRA: V16L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
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, VerĂ´nica 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: rs16822586
PubMed Link: 34650566
Variant Present in the following documents:
  • Table_3.xlsx, sheet 3
  • Table_3.xlsx, sheet 5
  • Table_3.xlsx, sheet 1
  • Table_3.xlsx, sheet 2
  • Table_3.xlsx, sheet 4
View BVdb publication page



A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.

Nature Communications
Qiu, Fang F; Tang, Ruqi R; Zuo, Xianbo X; Shi, Xingjuan X; Wei, Yiran Y; Zheng, Xiaodong X; Dai, Yaping Y; Gong, Yuhua Y; Wang, Lan L; Xu, Ping P; Zhu, Xiang X; Wu, Jian J; Han, Chongxu C; Gao, Yueqiu Y; Zhang, Kui K; Jiang, Yuzhang Y; Zhou, Jianbo J; Shao, Youlin Y; Hu, Zhigang Z; Tian, Ye Y; Zhang, Haiyan H; Dai, Na N; Liu, Lei L; Wu, Xudong X; Zhao, Weifeng W; Zhang, Xiaomin X; Zang, Zhidong Z; Nie, Jinshan J; Sun, Weihao W; Zhao, Yi Y; Mao, Yuan Y; Jiang, Po P; Ji, Hualiang H; Dong, Qing Q; Li, Junming J; Li, Zhenzhong Z; Bai, Xinli X; Li, Li L; Lin, Maosong M; Dong, Ming M; Li, Jinxin J; Zhu, Ping P; Wang, Chan C; Zhang, Yanqiu Y; Jiang, Peng P; Wang, Yujue Y; Jawed, Rohil R; Xu, Jing J; Zhang, Yu Y; Wang, Qixia Q; Yang, Yue Y; Yang, Fan F; Lian, Min M; Jiang, Xiang X; Xiao, Xiao X; Li, Yanmei Y; Fang, Jingyuan J; Qiu, Dekai D; Zhu, Zhen Z; Qiu, Hong H; Zhang, Jianqiong J; Tian, Wenyan W; Chen, Sufang S; Jiang, Ling L; Ji, Bing B; Li, Ping P; Chen, Guochang G; Wu, Tianxue T; Sun, Yan Y; Yu, Jianjiang J; Tang, Huijun H; He, Michun M; Xia, Min M; Pei, Hao H; Huang, Lihua L; Qing, Zhuye Z; Wu, Jianfang J; Huang, Qinghai Q; Han, Junhai J; Xie, Wei W; Sun, Zhongsheng Z; Guo, Jian J; He, Gengsheng G; Eric Gershwin, M M; Lian, Zhexiong Z; Liu, Xiang X; Seldin, Michael F MF; Liu, Xiangdong X; Chen, Weichang W; Ma, Xiong X
Publication Date: 2017-04-20

Variant appearance in text: rs16822586
PubMed Link: 28425483
Variant Present in the following documents:
  • ncomms14828-s1.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs16822586
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: N/A
PubMed Link: 26206375
Variant Present in the following documents:
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: HLA-DRA: V16L; rs16822586
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: HLA-DRA: V16L; rs16822586
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page