ADAMTS13 c.1342C>A ;(p.Q448K)

Variant ID: 9-136301982-C-A

NM_139027.4(ADAMTS13):c.1342C>A;(p.Q448K)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2301612
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic and Functional Evidence of Complement Dysregulation in Multiple Myeloma Patients with Carfilzomib-Induced Thrombotic Microangiopathy Compared to Controls.

Journal Of Clinical Medicine
Gavriilaki, Eleni E; Dalampira, Dimitra D; Theodorakakou, Foteini F; Liacos, Christine-Ivy CI; Kanellias, Nikolaos N; Eleutherakis-Papaiakovou, Evangelos E; Terpos, Evangelos E; Gavriatopoulou, Maria M; Verrou, Evgenia E; Triantafyllou, Theodora T; Sevastoudi, Aggeliki A; Koravou, Evaggelia-Evdoxia EE; Touloumenidou, Tasoula T; Varelas, Christos C; Papalexandri, Apostolia A; Sakellari, Ioanna I; Dimopoulos, Meletios A MA; Kastritis, Efstathios E; Katodritou, Eirini E
Publication Date: 2022-06-10

Variant appearance in text: rs2301612
PubMed Link: 35743426
Variant Present in the following documents:
  • Main text
  • jcm-11-03355.pdf
View BVdb publication page



Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Blood Advances
Jankowska, Katarzyna I KI; Meyer, Douglas D; Holcomb, David D DD; Kames, Jacob J; Hamasaki-Katagiri, Nobuko N; Katneni, Upendra K UK; Hunt, Ryan C RC; Ibla, Juan C JC; Kimchi-Sarfaty, Chava C
Publication Date: 2022-09-27

Variant appearance in text: rs2301612
PubMed Link: 35667091
Variant Present in the following documents:
  • advancesADV2022007065.pdf
View BVdb publication page



The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data
Zhao, Ting T; Fan, Shanghua S; Sun, Liu L
Publication Date: 2021-11-17

Variant appearance in text: rs2301612
PubMed Link: 34789164
Variant Present in the following documents:
  • 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1
  • 12863_2021_1010_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.

International Journal Of Molecular Sciences
Bogdał, Anna A; Badeński, Andrzej A; Pac, Małgorzata M; Wójcicka, Anna A; Badeńska, Marta M; Didyk, Agnieszka A; Trembecka-Dubel, Elżbieta E; Dąbrowska-Leonik, Nel N; Walaszczyk, Małgorzata M; Matysiak, Natalia N; Morawiec-Knysak, Aurelia A; Szczepański, Tomasz T; Szczepańska, Maria M
Publication Date: 2021-08-31

Variant appearance in text: rs2301612
PubMed Link: 34502390
Variant Present in the following documents:
  • Main text
  • ijms-22-09479.pdf
View BVdb publication page



Association of CDKN2A/CDKN2B Gene Polymorphisms with Increased Susceptibility to Intracranial Aneurysm in a Chinese Han Population.

Neuropsychiatric Disease And Treatment
Cui, Xiaopeng X; Xin, Wen-Qiang WQ; Wang, Bangyue B; Zhao, Yan Y; Hou, Changkai C; Cai, Shifei S; Peng, Chao C; Wang, Zhen Z; Li, Jian J; Huan, Linchun L; Chen, Lei L; Yang, Xinyu X
Publication Date: 2021

Variant appearance in text: rs2301612
PubMed Link: 34012264
Variant Present in the following documents:
  • Main text
  • ndt-17-1443.pdf
View BVdb publication page



Genetic justification of severe COVID-19 using a rigorous algorithm.

Clinical Immunology (Orlando, Fla.)
Gavriilaki, Eleni E; Asteris, Panagiotis G PG; Touloumenidou, Tasoula T; Koravou, Evaggelia-Evdoxia EE; Koutra, Maria M; Papayanni, Penelope Georgia PG; Karali, Vassiliki V; Papalexandri, Apostolia A; Varelas, Christos C; Chatzopoulou, Fani F; Chatzidimitriou, Maria M; Chatzidimitriou, Dimitrios D; Veleni, Anastasia A; Grigoriadis, Savvas S; Rapti, Evdoxia E; Chloros, Diamantis D; Kioumis, Ioannis I; Kaimakamis, Evaggelos E; Bitzani, Milly M; Boumpas, Dimitrios D; Tsantes, Argyris A; Sotiropoulos, Damianos D; Sakellari, Ioanna I; Kalantzis, Ioannis G IG; Parastatidis, Stefanos T ST; Koopialipoor, Mohammadreza M; Cavaleri, Liborio L; Armaghani, Danial J DJ; Papadopoulou, Anastasia A; Brodsky, Robert Alan RA; Kokoris, Styliani S; Anagnostopoulos, Achilles A
Publication Date: 2021-05

Variant appearance in text: rs2301612
PubMed Link: 33845193
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Intracranial aneurysm's association with genetic variants, transcription abnormality, and methylation changes in ADAMTS genes.

Peerj
Chen, Shi S; Li, Mengqi M; Xin, Wenqiang W; Liu, Shengze S; Zheng, Linfei L; Li, Yan Y; Li, Mengyao M; Zhan, Mengxiong M; Yang, Xinyu X
Publication Date: 2020

Variant appearance in text: rs2301612
PubMed Link: 32095376
Variant Present in the following documents:
  • Main text
  • peerj-08-8596.pdf
View BVdb publication page



What makes non-cirrhotic portal hypertension a common disease in India? Analysis for environmental factors.

The Indian Journal Of Medical Research
Goel, Ashish A; Ramakrishna, Banumathi B; Zachariah, Uday U; Sajith, K G KG; Burad, Deepak K DK; Kodiatte, Thomas A TA; Keshava, Shyamkumar N SN; Balasubramanian, K A KA; Elias, Elwyn E; Eapen, C E CE
Publication Date: 2019-04

Variant appearance in text: rs2301612
PubMed Link: 31411170
Variant Present in the following documents:
  • Main text
  • IJMR-149-468.pdf
View BVdb publication page



A Disintegrin and Metalloproteinase (ADAM) and ADAM with thrombospondin motifs (ADAMTS) family in vascular biology and disease.

Biochemical Pharmacology
Zhong, Sheng S; Khalil, Raouf A RA
Publication Date: 2019-06

Variant appearance in text: rs2301612
PubMed Link: 30905657
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2301612
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports
Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM
Publication Date: 2018-07-19

Variant appearance in text: rs2301612
PubMed Link: 30026549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2301612
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs2301612
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2301612
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.

Plos One
Edwards, Nathan C NC; Hing, Zachary A ZA; Perry, Avital A; Blaisdell, Adam A; Kopelman, David B DB; Fathke, Robert R; Plum, William W; Newell, Jordan J; Allen, Courtni E CE; S, Geetha G; Shapiro, Aaron A; Okunji, Chinyere C; Kosti, Idit I; Shomron, Noam N; Grigoryan, Vahan V; Przytycka, Teresa M TM; Sauna, Zuben E ZE; Salari, Raheleh R; Mandel-Gutfreund, Yael Y; Komar, Anton A AA; Kimchi-Sarfaty, Chava C
Publication Date: 2012

Variant appearance in text: rs2301612
PubMed Link: 22768050
Variant Present in the following documents:
  • Main text
  • pone.0038864.pdf
View BVdb publication page