TGFBR1 c.*3286G>C

Variant ID: 9-101914873-G-C

NM_004612.2(TGFBR1):c.*3286G>C

This variant was identified in 12 publications

View GRCh38 version.




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: rs420549
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs420549
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs420549
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs420549
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
View BVdb publication page



Endoglin pathway genetic variation in preeclampsia: A validation study in Norwegian and Latina cohorts.

Pregnancy Hypertension
Schmella, Mandy J MJ; Roberts, James M JM; Conley, Yvette P YP; Ren, Dianxu D; Storvold, Gro L GL; Ingles, Sue A SA; Wilson, Melissa L ML; Staff, Anne Catherine AC; Hubel, Carl A CA
Publication Date: 2018-04

Variant appearance in text: rs420549
PubMed Link: 29580923
Variant Present in the following documents:
  • Main text
  • main.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: rs420549
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



SNP selection in genome-wide association studies via penalized support vector machine with MAX test.

Computational And Mathematical Methods In Medicine
Kim, Jinseog J; Sohn, Insuk I; Kim, Dennis Dong Hwan DD; Jung, Sin-Ho SH
Publication Date: 2013

Variant appearance in text: rs420549
PubMed Link: 24174989
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in endoglin pathway genes is associated with preeclampsia: a case-control candidate gene association study.

Bmc Pregnancy And Childbirth
Bell, Mandy J MJ; Roberts, James M JM; Founds, Sandra A SA; Jeyabalan, Arun A; Terhorst, Lauren L; Conley, Yvette P YP
Publication Date: 2013-04-01

Variant appearance in text: rs420549
PubMed Link: 23548068
Variant Present in the following documents:
  • Main text
  • 1471-2393-13-82.pdf
View BVdb publication page



Debate about TGFBR1 and the susceptibility to colorectal cancer.

World Journal Of Gastrointestinal Oncology
Valle, Laura L
Publication Date: 2012-01-15

Variant appearance in text: rs420549
PubMed Link: 22347533
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations.

British Journal Of Cancer
Seguí, N N; Stevens, K N KN; Guinó, E E; Rozek, L S LS; Moreno, V R VR; Capellá, G G; Gruber, S B SB; Valle, L L
Publication Date: 2011-02-15

Variant appearance in text: rs420549
PubMed Link: 21224855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele-specific expression of TGFBR1 in colon cancer patients.

Carcinogenesis
Tomsic, Jerneja J; Guda, Kishore K; Liyanarachchi, Sandya S; Hampel, Heather H; Natale, Leanna L; Markowitz, Sanford D SD; Tanner, Stephan M SM; de la Chapelle, Albert A
Publication Date: 2010-10

Variant appearance in text: rs420549
PubMed Link: 20705955
Variant Present in the following documents:
  • Main text
  • bgq165.pdf
View BVdb publication page



Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients.

Cancer Research
Guda, Kishore K; Natale, Leanna L; Lutterbaugh, James J; Wiesner, Georgia L GL; Lewis, Susan S; Tanner, Stephan M SM; Tomsic, Jerneja J; Valle, Laura L; de la Chapelle, Albert A; Elston, Robert C RC; Willis, Joseph J; Markowitz, Sanford D SD
Publication Date: 2009-06-15

Variant appearance in text: rs420549
PubMed Link: 19509225
Variant Present in the following documents:
  • Main text
View BVdb publication page