TET2 c.5449C>A ;(p.H1817N)

Variant ID: 4-106197116-C-A

NM_001127208.2(TET2):c.5449C>A;(p.H1817N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Frontiers In Genetics
Gatua, Mercy M; Navari, Mohsen M; Ong'ondi, Matilda M; Onyango, Noel N; Kaggia, Serah S; Rogena, Emily E; Visani, Giuseppe G; Abinya, Nicholas A NA; Piccaluga, Pier Paolo PP
Publication Date: 2022

Variant appearance in text: TET2: 5449C>A; H1817N
PubMed Link: 35836575
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 2
View BVdb publication page



Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer
Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y
Publication Date: 2022-03-12

Variant appearance in text: TET2: 5449C>A; H1817N; rs141442603
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: 5449C>A; His1817Asn; rs141442603
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: TET2: H1817N; rs141442603
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.

Leukemia
Kutny, M A MA; Alonzo, T A TA; Gamazon, E R ER; Gerbing, R B RB; Geraghty, D D; Lange, B B; Heerema, N A NA; Sung, L L; Aplenc, R R; Franklin, J J; Raimondi, S C SC; Hirsch, B A BA; Konkashbaev, A A; Cox, N J NJ; Onel, K K; Gamis, A S AS; Meshinchi, S S
Publication Date: 2015-12

Variant appearance in text: rs141442603
PubMed Link: 26126966
Variant Present in the following documents:
  • NIHMS692629-supplement-1.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: TET2: H1817N; rs141442603
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page