WARS2 c.349G>T ;(p.V117L)

Variant ID: 1-119588285-C-A

NM_015836.3(WARS2):c.349G>T;(p.V117L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Wars2 mutant mouse shows a sex and diet specific change in fat distribution, reduced food intake and depot-specific upregulation of WAT browning.

Frontiers In Physiology
Mušo, Milan M; Bentley, Liz L; Vizor, Lucie L; Yon, Marianne M; Burling, Keith K; Barker, Peter P; Zolkiewski, Louisa A K LAK; Cox, Roger D RD; Dumbell, Rebecca R
Publication Date: 2022

Variant appearance in text: WARS2: V117L
PubMed Link: 36091365
Variant Present in the following documents:
  • Main text
  • fphys-13-953199.pdf
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Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.

Frontiers In Cellular Neuroscience
Xu, Pengcheng P; Wang, Longhao L; Peng, Hu H; Liu, Huihui H; Liu, Hongchao H; Yuan, Qingyue Q; Lin, Yun Y; Xu, Jun J; Pang, Xiuhong X; Wu, Hao H; Yang, Tao T
Publication Date: 2021

Variant appearance in text: WARS2: V117L
PubMed Link: 34975414
Variant Present in the following documents:
  • Main text
  • fncel-15-804345.pdf
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The regulatory roles of aminoacyl-tRNA synthetase in cardiovascular disease.

Molecular Therapy. Nucleic Acids
Zou, Yulin Y; Yang, Yanyan Y; Fu, Xiuxiu X; He, Xiangqin X; Liu, Meixin M; Zong, Tingyu T; Li, Xiaolu X; Htet Aung, Lynn L; Wang, Zhibin Z; Yu, Tao T
Publication Date: 2021-09-03

Variant appearance in text: WARS2: V117L
PubMed Link: 34484863
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.

Cell Reports
Agnew, Thomas T; Goldsworthy, Michelle M; Aguilar, Carlos C; Morgan, Anna A; Simon, Michelle M; Hilton, Helen H; Esapa, Chris C; Wu, Yixing Y; Cater, Heather H; Bentley, Liz L; Scudamore, Cheryl C; Poulton, Joanna J; Morten, Karl J KJ; Thompson, Kyle K; He, Langping L; Brown, Steve D M SDM; Taylor, Robert W RW; Bowl, Michael R MR; Cox, Roger D RD
Publication Date: 2018-12-18

Variant appearance in text: WARS2: 349G>T; V117L
PubMed Link: 30566859
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page