HSPB7 c.387G>A ;(p.P129=)

Variant ID: 1-16342201-C-T

NM_014424.4(HSPB7):c.387G>A;(p.P129=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: rs11807575
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
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: HSPB7: P129P; rs11807575
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.

Plos Genetics
Stark, Klaus K; Esslinger, Ulrike B UB; Reinhard, Wibke W; Petrov, George G; Winkler, Thomas T; Komajda, Michel M; Isnard, Richard R; Charron, Philippe P; Villard, Eric E; Cambien, François F; Tiret, Laurence L; Aumont, Marie-Claude MC; Dubourg, Olivier O; Trochu, Jean-Noël JN; Fauchier, Laurent L; Degroote, Pascal P; Richter, Anette A; Maisch, Bernhard B; Wichter, Thomas T; Zollbrecht, Christa C; Grassl, Martina M; Schunkert, Heribert H; Linsel-Nitschke, Patrick P; Erdmann, Jeanette J; Baumert, Jens J; Illig, Thomas T; Klopp, Norman N; Wichmann, H-Erich HE; Meisinger, Christa C; Koenig, Wolfgang W; Lichtner, Peter P; Meitinger, Thomas T; Schillert, Arne A; König, Inke R IR; Hetzer, Roland R; Heid, Iris M IM; Regitz-Zagrosek, Vera V; Hengstenberg, Christian C
Publication Date: 2010-10-21

Variant appearance in text: rs11807575
PubMed Link: 20975947
Variant Present in the following documents:
  • Main text
  • pgen.1001167.pdf
View BVdb publication page