HSPA1L c.1221G>A ;(p.T407=)

Variant ID: 6-31778529-C-T

NM_005527.3(HSPA1L):c.1221G>A;(p.T407=)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: HSPA1L: T407T; rs2075799
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Nature Communications
Han, Younghun Y; Byun, Jinyoung J; Zhu, Catherine C; Sun, Ryan R; Roh, Julia Y JY; Cordell, Heather J HJ; Lee, Hyun-Sung HS; Shaw, Vikram R VR; Kang, Sung Wook SW; Razjouyan, Javad J; Cooley, Matthew A MA; Hassan, Manal M MM; Siminovitch, Katherine A KA; Folseraas, Trine T; Ellinghaus, David D; Bergquist, Annika A; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; , ; McGlynn, Katherine A KA; Roberts, Lewis R LR; Amos, Christopher I CI
Publication Date: 2023-02-24

Variant appearance in text: HSPA1L: T407T; rs2075799
PubMed Link: 36828809
Variant Present in the following documents:
  • 41467_2023_36678_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: HSPA1L: T407T; rs2075799
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.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: HSPA1L: T407T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: HSPA1L: T407T
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Investigating Causal Relations between Genetic-Related Intermediate Endophenotype and Risk of Chronic Prostatitis: Mendelian Randomization Study.

Oxidative Medicine And Cellular Longevity
Zhang, Shengfeng S; Xie, Xing X; Yu, Lei L; Jiang, Nili N; Wei, Xihuan X; Hu, Yanling Y
Publication Date: 2022

Variant appearance in text: rs2075799
PubMed Link: 36071874
Variant Present in the following documents:
  • OMCL2022-4560609.pdf
View BVdb publication page



Glial changes in schizophrenia: Genetic and epigenetic approach.

Indian Journal Of Psychiatry
Francisco, Ramos Daniel RD; Fernando, Vazquez V; Norma, Estrada E; Madai, Méndez Edna ME; Marcelo, Barraza B
Publication Date: 2022

Variant appearance in text: rs2075799
PubMed Link: 35400734
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Annals Of Human Genetics
Zhang, Dejun D; Wu, Jie J; Yuan, Yongyi Y; Li, Xiaohong X; Gao, Xue X; Han, Mingyu M; Gao, Song S; Huang, Shasha S; Dai, Pu P
Publication Date: 2022-07

Variant appearance in text: HSPA1L: 1221G>A; T407T; rs2075799
PubMed Link: 35292975
Variant Present in the following documents:
  • AHG-86-207-s002.xlsx, sheet 1
View BVdb publication page



Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: HSPA1L: T407T
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
View BVdb publication page



Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: HSPA1L: T407T
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
View BVdb publication page



Association of heat shock protein polymorphisms with patient susceptibility to coronary artery disease comorbid depression and anxiety in a Chinese population.

Peerj
Wang, Haidong H; Ba, Yudong Y; Han, Wenxiu W; Zhang, Haixia H; Zhu, Laiqing L; Jiang, Pei P
Publication Date: 2021

Variant appearance in text: rs2075799
PubMed Link: 34178482
Variant Present in the following documents:
  • Main text
  • peerj-09-11636.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: HSPA1L: Thr407Thr; rs2075799
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: HSPA1L: T407T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs2075799
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Concurrent action of purifying selection and gene conversion results in extreme conservation of the major stress-inducible Hsp70 genes in mammals.

Scientific Reports
Hess, Kyle K; Oliverio, Ryan R; Nguyen, Peter P; Le, Dat D; Ellis, Jacqueline J; Kdeiss, Brianna B; Ord, Sara S; Chalkia, Dimitra D; Nikolaidis, Nikolas N
Publication Date: 2018-03-23

Variant appearance in text: rs2075799
PubMed Link: 29572464
Variant Present in the following documents:
  • 41598_2018_23508_MOESM1_ESM.pdf
View BVdb publication page



De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

Genome Medicine
Takahashi, Shinichi S; Andreoletti, Gaia G; Chen, Rui R; Munehira, Yoichi Y; Batra, Akshay A; Afzal, Nadeem A NA; Beattie, R Mark RM; Bernstein, Jonathan A JA; Ennis, Sarah S; Snyder, Michael M
Publication Date: 2017-01-26

Variant appearance in text: HSPA1L: 1221G>A; Thr407Thr; rs2075799
PubMed Link: 28126021
Variant Present in the following documents:
  • Main text
  • 13073_2016_Article_394.pdf
View BVdb publication page



Abstracts for the 15th International Congress on Schizophrenia Research (ICOSR), March 28-April 1, 2015, Colorado Springs, Colorado.

Schizophrenia Bulletin
Publication Date: 2015-03

Variant appearance in text: rs2075799
PubMed Link: 26305006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: HSPA1L: T407T; rs2075799
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: HSPA1L: T407T; rs2075799
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 2
  • NIHMS580846-supplement-1.xlsx, sheet 3
View BVdb publication page



Heat shock protein 70 gene polymorphisms are associated with paranoid schizophrenia in the Polish population.

Cell Stress & Chaperones
Kowalczyk, Malgorzata M; Owczarek, Aleksander A; Suchanek, Renata R; Paul-Samojedny, Monika M; Fila-Danilow, Anna A; Borkowska, Paulina P; Kucia, Krzysztof K; Kowalski, Jan J
Publication Date: 2014-03

Variant appearance in text: rs2075799
PubMed Link: 23893339
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.

Plos Genetics
Yang, Xiaobo X; Sun, Jielin J; Gao, Yong Y; Tan, Aihua A; Zhang, Haiying H; Hu, Yanling Y; Feng, Junjie J; Qin, Xue X; Tao, Sha S; Chen, Zhuo Z; Kim, Seong-Tae ST; Peng, Tao T; Liao, Ming M; Lin, Xiaoling X; Zhang, Zengfeng Z; Tang, Minzhong M; Li, Li L; Mo, Linjian L; Liang, Zhengjia Z; Shi, Deyi D; Huang, Zhang Z; Huang, Xianghua X; Liu, Ming M; Liu, Qian Q; Zhang, Shijun S; Trent, Jeffrey M JM; Zheng, S Lilly SL; Xu, Jianfeng J; Mo, Zengnan Z
Publication Date: 2012-09

Variant appearance in text: rs2075799
PubMed Link: 23028341
Variant Present in the following documents:
  • Main text
  • pgen.1002916.pdf
View BVdb publication page



Genetic determinants of HSP70 gene expression following heat shock.

Human Molecular Genetics
Maugeri, Narelle N; Radhakrishnan, Jayachandran J; Knight, Julian C JC
Publication Date: 2010-12-15

Variant appearance in text: rs2075799
PubMed Link: 20876613
Variant Present in the following documents:
  • supp_ddq418_ddq418supp.pdf
View BVdb publication page



A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ
Publication Date: 2007-07-02

Variant appearance in text: rs2075799
PubMed Link: 17601350
Variant Present in the following documents:
View BVdb publication page