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TET2 c.2282C>T ;(p.P761L)
Variant ID: 4-106157381-C-T
NM_001127208.2(
TET2
):c.2282C>T;(p.P761L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023
Variant appearance in text: TET2: 2282C>T; Pro761Leu
PubMed Link:
36923788
Variant Present in the following documents:
Table3.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: 2282C>T; Pro761Leu; rs200327850
PubMed Link:
31187595
Variant Present in the following documents:
View BVdb publication page
Feature-based classification of amino acid substitutions outside conserved functional protein domains.
Thescientificworldjournal
Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N
Publication Date: 2013
Variant appearance in text: TET2: P761L
PubMed Link:
24348198
Variant Present in the following documents:
948617.f1.pdf
View BVdb publication page