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TET2 c.1165A>C ;(p.K389Q)
Variant ID: 4-106156264-A-C
NM_001127208.2(
TET2
):c.1165A>C;(p.K389Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Frontiers In Oncology
Fang, Ying Y; Guo, Juan J; Wu, Dong D; Wu, Ling-Yun LY; Song, Lu-Xi LX; Zhang, Zheng Z; Zhao, You-Shan YS; Chang, Chun-Kang CK
Publication Date: 2020
Variant appearance in text: TET2: K389Q
PubMed Link:
33520721
Variant Present in the following documents:
Table_2.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: 1165A>C; Lys389Gln; rs143360504
PubMed Link:
31187595
Variant Present in the following documents:
View BVdb publication page