DDX11 c.-195T>A

Variant ID: 12-31226835-T-A

NM_030653.4(DDX11):c.-195T>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


How far are we from personalized gene expression prediction using sequence-to-expression deep neural networks?

Biorxiv : The Preprint Server For Biology
Sasse, Alexander A; Ng, Bernard B; Spiro, Anna A; Tasaki, Shinya S; Bennett, David A DA; Gaiteri, Christopher C; De Jager, Philip L PL; Chikina, Maria M; Mostafavi, Sara S
Publication Date: 2023-03-20

Variant appearance in text: rs7953706
PubMed Link: 36993652
Variant Present in the following documents:
  • media-1.pdf
View BVdb publication page



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: rs7953706
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: DDX11: -195T>A; rs7953706
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs7953706
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs7953706
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

Bmc Medical Genomics
Mullany, Lila E LE; Herrick, Jennifer S JS; Wolff, Roger K RK; Buas, Matthew F MF; Slattery, Martha L ML
Publication Date: 2016-04-23

Variant appearance in text: rs7953706
PubMed Link: 27107574
Variant Present in the following documents:
  • Main text
  • 12920_2016_Article_181.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs7953706
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Mapping of a major locus that determines telomere length in humans.

American Journal Of Human Genetics
Vasa-Nicotera, Mariuca M; Brouilette, Scott S; Mangino, Massimo M; Thompson, John R JR; Braund, Peter P; Clemitson, Jenny-Rebecca JR; Mason, Andrea A; Bodycote, Clare L CL; Raleigh, Stuart M SM; Louis, Edward E; Samani, Nilesh J NJ
Publication Date: 2005-01

Variant appearance in text: rs7953706
PubMed Link: 15520935
Variant Present in the following documents:
  • Main text
View BVdb publication page