SETD2 c.3465T>A ;(p.N1155K)

Variant ID: 3-47162661-A-T

NM_014159.6(SETD2):c.3465T>A;(p.N1155K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Frontiers In Genetics
Li, Jiaming J; Peng, Zhenping Z; Luo, Fangxiu F; Chen, Yu Y
Publication Date: 2020

Variant appearance in text: SETD2: N1155K
PubMed Link: 32849799
Variant Present in the following documents:
  • Main text
  • Presentation_1.pdf
  • fgene-11-00794.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs6767907
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic polymorphisms of histone methyltransferase SETD2 predicts prognosis and chemotherapy response in Chinese acute myeloid leukemia patients.

Journal Of Translational Medicine
Wang, Suwei S; Yuan, Xiaoqing X; Liu, Yazhen Y; Zhu, Kewei K; Chen, Peng P; Yan, Han H; Zhang, Daoyu D; Li, Xi X; Zeng, Hui H; Zhao, Xielan X; Chen, Xiaoping X; Zhou, Gan G; Cao, Shan S
Publication Date: 2019-03-28

Variant appearance in text: rs6767907
PubMed Link: 30922329
Variant Present in the following documents:
  • Main text
  • 12967_2019_Article_1848.pdf
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: rs6767907
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs6767907
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics
Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P
Publication Date: 2018

Variant appearance in text: rs6767907
PubMed Link: 29375670
Variant Present in the following documents:
  • 13039_2018_357_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget
Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG
Publication Date: 2017-12-19

Variant appearance in text: rs6767907
PubMed Link: 29340109
Variant Present in the following documents:
  • oncotarget-08-112036-s003.xlsx, sheet 1
View BVdb publication page