HLA-A c.127G>A ;(p.E43K)

Variant ID: 6-29910587-G-A

NM_002116.7(HLA-A):c.127G>A;(p.E43K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Frontiers In Neurology
Chen, Zirong Z; Yang, Huaitao H; Wang, Jiajia J; Long, Guoxian G; Xi, Qingsong Q; Chen, Tao T; He, Yue Y; Zhang, Bin B; Wan, Feng F
Publication Date: 2023

Variant appearance in text: HLA-A: 127G>A; Glu43Lys; rs41549014
PubMed Link: 37181548
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 1
View BVdb publication page



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-A: E43K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: rs41549014
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study.

Neoplasia (New York, N.Y.)
Chiou, Hsin-Ying Clair HC; Jiang, He-Jiun HJ; Yang, Sheau-Fang SF; Kuo, Kung-Kai KK; Lin, Pi-Chen PC; Hsiao, Pi-Jung PJ
Publication Date: 2020-07

Variant appearance in text: HLA-A: 127G>A; E43K
PubMed Link: 32438306
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, Proteomics & Bioinformatics
Du, Zhenglin Z; Ma, Liang L; Qu, Hongzhu H; Chen, Wei W; Zhang, Bing B; Lu, Xi X; Zhai, Weibo W; Sheng, Xin X; Sun, Yongqiao Y; Li, Wenjie W; Lei, Meng M; Qi, Qiuhui Q; Yuan, Na N; Shi, Shuo S; Zeng, Jingyao J; Wang, Jinyue J; Yang, Yadong Y; Liu, Qi Q; Hong, Yaqiang Y; Dong, Lili L; Zhang, Zhewen Z; Zou, Dong D; Wang, Yanqing Y; Song, Shuhui S; Liu, Fan F; Fang, Xiangdong X; Chen, Hua H; Liu, Xin X; Xiao, Jingfa J; Zeng, Changqing C
Publication Date: 2019-06

Variant appearance in text: rs41549014
PubMed Link: 31494266
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs41549014
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: HLA-A: 127G>A; E43K; rs41549014
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.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: HLA-A: E43K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page