CTSZ c.*248G>A

Variant ID: 20-57570456-C-T

NM_001336.3(CTSZ):c.*248G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs10369
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs10369
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



CLEC4E (Mincle) genetic variation associates with pulmonary tuberculosis in Guinea-Bissau (West Africa).

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Olvany, Jasmine M JM; Sausville, Lindsay N LN; White, Marquitta J MJ; Tacconelli, Alessandra A; Tavera, Gloria G; Sobota, Rafal S RS; Ciccacci, Cinzia C; Bohlbro, Anders S AS; Wejse, Christian C; Williams, Scott M SM; Sirugo, Giorgio G
Publication Date: 2020-11

Variant appearance in text: rs10369
PubMed Link: 32971250
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs10369
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs10369
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Polymorphisms in MC3R promoter and CTSZ 3'UTR are associated with tuberculosis susceptibility.

European Journal Of Human Genetics : Ejhg
Adams, Lindsey A LA; Möller, Marlo M; Nebel, Almut A; Schreiber, Stefan S; van der Merwe, Lize L; van Helden, Paul D PD; Hoal, Eileen G EG
Publication Date: 2011-06

Variant appearance in text: rs10369
PubMed Link: 21368909
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to tuberculosis associated with cathepsin Z haplotype in a Ugandan household contact study.

Human Immunology
Baker, Allison R AR; Zalwango, Sarah S; Malone, LaShaunda L LL; Igo, Robert P RP; Qiu, Feiyou F; Nsereko, Mary M; Adams, Mark D MD; Supelak, Pamela P; Mayanja-Kizza, Harriet H; Boom, W Henry WH; Stein, Catherine M CM
Publication Date: 2011-05

Variant appearance in text: rs10369
PubMed Link: 21354459
Variant Present in the following documents:
  • Main text
View BVdb publication page