PCSK7 c.427G>T ;(p.V143F)

Variant ID: 11-117100134-C-A

NM_004716.2(PCSK7):c.427G>T;(p.V143F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Orphanet Journal Of Rare Diseases
Zhang, Wei W; Li, Yanmeng Y; Xu, Anjian A; Ouyang, Qin Q; Wu, Liyan L; Zhou, Donghu D; Wu, Lina L; Zhang, Bei B; Zhao, Xinyan X; Wang, Yu Y; Wang, Xiaoming X; Duan, Weijia W; Wang, Qianyi Q; You, Hong H; Huang, Jian J; Ou, Xiaojuan X; Jia, Jidong J; ,
Publication Date: 2022-06-06

Variant appearance in text: PCSK7: 427G>T; V143F
PubMed Link: 35668470
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2349.pdf
View BVdb publication page



Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021

Variant appearance in text: PCSK7: 427G>T; Val143Phe; rs116981680
PubMed Link: 34104084
Variant Present in the following documents:
  • ijmsv18p2532s2.xlsx, sheet 1
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: PCSK7: V143F; rs116981680
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Cell Death & Disease
Zhou, Qiang-Hua QH; Deng, Chuang-Zhong CZ; Li, Zai-Shang ZS; Chen, Jie-Ping JP; Yao, Kai K; Huang, Kang-Bo KB; Liu, Ting-Yu TY; Liu, Zhuo-Wei ZW; Qin, Zi-Ke ZK; Zhou, Fang-Jian FJ; Huang, Wenlin W; Han, Hui H; Liu, Ran-Yi RY
Publication Date: 2018-06-07

Variant appearance in text: PCSK7: 427G>T; V143F; rs116981680
PubMed Link: 29880898
Variant Present in the following documents:
  • Main text
  • 41419_2018_736_MOESM6_ESM.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: PCSK7: 427G>T; V143F; rs116981680
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: PCSK7: V143F; rs116981680
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page