ZW10 c.638C>T ;(p.S213L)

Variant ID: 11-113629371-G-A

NM_004724.3(ZW10):c.638C>T;(p.S213L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: ZW10: S213L
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: ZW10: S213L; rs142759842
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: ZW10: 638C>T; Ser213Leu; rs142759842
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis identifies masqueraders of full-term cerebral palsy.

Annals Of Clinical And Translational Neurology
Takezawa, Yusuke Y; Kikuchi, Atsuo A; Haginoya, Kazuhiro K; Niihori, Tetsuya T; Numata-Uematsu, Yurika Y; Inui, Takehiko T; Yamamura-Suzuki, Saeko S; Miyabayashi, Takuya T; Anzai, Mai M; Suzuki-Muromoto, Sato S; Okubo, Yukimune Y; Endo, Wakaba W; Togashi, Noriko N; Kobayashi, Yasuko Y; Onuma, Akira A; Funayama, Ryo R; Shirota, Matsuyuki M; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S
Publication Date: 2018-05

Variant appearance in text: ZW10: S213L
PubMed Link: 29761117
Variant Present in the following documents:
  • ACN3-5-538-s001.xlsx, 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: ZW10: 638C>T; S213L; rs142759842
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page