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SMAD2 c.*7207T>C
Variant ID: 18-45360991-A-G
NM_005901.5(
SMAD2
):c.*7207T>C
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.
Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022
Variant appearance in text: rs1981
PubMed Link:
35899134
Variant Present in the following documents:
Table_1.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: rs1981
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: rs1981
PubMed Link:
29221171
Variant Present in the following documents:
oncotarget-08-95841-s002.xlsx, sheet 1
oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page
Transforming growth factor-β signaling pathway-associated genes SMAD2 and TGFBR2 are implicated in metabolic syndrome in a Taiwanese population.
Scientific Reports
Lin, Eugene E; Kuo, Po-Hsiu PH; Liu, Yu-Li YL; Yang, Albert C AC; Tsai, Shih-Jen SJ
Publication Date: 2017-10-19
Variant appearance in text: rs1981
PubMed Link:
29051557
Variant Present in the following documents:
Main text
41598_2017_Article_14025.pdf
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: rs1981
PubMed Link:
28535796
Variant Present in the following documents:
13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.
Frontiers In Genetics
Mitra, Amit K AK; Stessman, Holly A F HA; Schaefer, Robert J RJ; Wang, Wen W; Myers, Chad L CL; Van Ness, Brian G BG; Beiraghi, Soraya S
Publication Date: 2016
Variant appearance in text: rs1981
PubMed Link:
27242896
Variant Present in the following documents:
Main text
fgene-07-00088.pdf
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: rs1981
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page
Powerful haplotype-based Hardy-Weinberg equilibrium tests for tightly linked loci.
Plos One
Mao, Wei-Gao WG; He, Hai-Qiang HQ; Xu, Yan Y; Chen, Ping-Yan PY; Zhou, Ji-Yuan JY
Publication Date: 2013
Variant appearance in text: rs1981
PubMed Link:
24167573
Variant Present in the following documents:
Main text
pone.0077399.pdf
View BVdb publication page
Changes in health-related quality of life and clinical implications in Chinese patients with chronic cough.
Cough (London, England)
Ma, Wei W; Yu, Li L; Wang, Yu Y; Li, Xin X; Lü, Hanjing H; Qiu, Zhongmin Z
Publication Date: 2009-09-25
Variant appearance in text: rs1981
PubMed Link:
19781068
Variant Present in the following documents:
1745-9974-5-7.pdf
View BVdb publication page