HSPA9 c.1426G>A ;(p.A476T)

Variant ID: 5-137894331-C-T

NM_004134.6(HSPA9):c.1426G>A;(p.A476T)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Mitochondrial HSP70 Chaperone System-The Influence of Post-Translational Modifications and Involvement in Human Diseases.

International Journal Of Molecular Sciences
Havalová, Henrieta H; Ondrovičová, Gabriela G; Keresztesová, Barbora B; Bauer, Jacob A JA; Pevala, Vladimír V; Kutejová, Eva E; Kunová, Nina N
Publication Date: 2021-07-28

Variant appearance in text: HSPA9: A476T
PubMed Link: 34360841
Variant Present in the following documents:
  • Main text
  • ijms-22-08077.pdf
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: HSPA9: A476T
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Loss of HSPA9 induces peroxisomal degradation by increasing pexophagy.

Autophagy
Jo, Doo Sin DS; Park, So Jung SJ; Kim, Ae-Kyeong AK; Park, Na Yeon NY; Kim, Joon Bum JB; Bae, Ji-Eun JE; Park, Hyun Jun HJ; Shin, Ji Hyun JH; Chang, Jong Wook JW; Kim, Peter K PK; Jung, Yong-Keun YK; Koh, Jae-Young JY; Choe, Seong-Kyu SK; Lee, Kyu-Sun KS; Cho, Dong-Hyung DH
Publication Date: 2020-11

Variant appearance in text: HSPA9: A476T
PubMed Link: 31964216
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: HSPA9: A476T
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 26
View BVdb publication page



GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Human Molecular Genetics
Dong, Yi Na YN; McMillan, Emily E; Clark, Elisia M EM; Lin, Hong H; Lynch, David R DR
Publication Date: 2019-05-15

Variant appearance in text: GRP75: A476T
PubMed Link: 30590615
Variant Present in the following documents:
  • Main text
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: HSPA9: A476T; rs145860531
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22

Variant appearance in text: HSPA9: A476T
PubMed Link: 27545006
Variant Present in the following documents:
  • srep31628-s2.xls, sheet 2
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: HSPA9: A476T; rs145860531
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1.

Cell Death & Disease
Burbulla, L F LF; Fitzgerald, J C JC; Stegen, K K; Westermeier, J J; Thost, A-K AK; Kato, H H; Mokranjac, D D; Sauerwald, J J; Martins, L M LM; Woitalla, D D; Rapaport, D D; Riess, O O; Proikas-Cezanne, T T; Rasse, T M TM; Krüger, R R
Publication Date: 2014-04-17

Variant appearance in text: GRP75: A476T
PubMed Link: 24743735
Variant Present in the following documents:
  • Main text
  • cddis2014103a.pdf
View BVdb publication page



The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.

Current Genomics
Gaweda-Walerych, Katarzyna K; Zekanowski, Cezary C
Publication Date: 2013-12

Variant appearance in text: HSPA9: A476T
PubMed Link: 24532986
Variant Present in the following documents:
  • Main text
  • CG-14-543.pdf
View BVdb publication page



Enhanced J-protein interaction and compromised protein stability of mtHsp70 variants lead to mitochondrial dysfunction in Parkinson's disease.

Human Molecular Genetics
Goswami, Arvind Vittal AV; Samaddar, Madhuja M; Sinha, Devanjan D; Purushotham, Jaya J; D'Silva, Patrick P
Publication Date: 2012-08-01

Variant appearance in text: HSPA9: A476T
PubMed Link: 22544056
Variant Present in the following documents:
  • Main text
  • dds162.pdf
View BVdb publication page