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GALNT2 c.*1749A>G
Variant ID: 1-230416953-A-G
NM_004481.3(
GALNT2
):c.*1749A>G
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: rs10005
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: rs10005
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: rs10005
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: rs10005
PubMed Link:
28535796
Variant Present in the following documents:
13023_2017_647_MOESM1_ESM.xlsx, sheet 4
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: rs10005
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page
Construction of boundary-surface-based Chinese female astronaut computational phantom and proton dose estimation.
Journal Of Radiation Research
Sun, Wenjuan W; Jia, Xianghong X; Xie, Tianwu T; Xu, Feng F; Liu, Qian Q
Publication Date: 2013-03-01
Variant appearance in text: rs10005
PubMed Link:
23135158
Variant Present in the following documents:
Main text
View BVdb publication page