TGFBR3 c.2293G>C ;(p.G765R)

Variant ID: 1-92163682-C-G

NM_003243.4(TGFBR3):c.2293G>C;(p.G765R)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Frontiers In Neurology
Chen, Zirong Z; Yang, Huaitao H; Wang, Jiajia J; Long, Guoxian G; Xi, Qingsong Q; Chen, Tao T; He, Yue Y; Zhang, Bin B; Wan, Feng F
Publication Date: 2023

Variant appearance in text: TGFBR3: 2293G>C; Gly765Arg; rs17882828
PubMed Link: 37181548
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 1
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: TGFBR3: G765R; rs17882828
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 9
  • can-22-2224_table_s8_suppst8.xlsx, sheet 8
View BVdb publication page



Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Biomedical Reports
Aitkulova, Akbota A; Mukhtarova, Kymbat K; Zholdybayeva, Elena E; Medetov, Yerkin Y; Dzhamantayeva, Botagoz B; Kassymbek, Kuat K; Utupov, Talgat T; Akhmetollayev, Ilyas I; Akshulakov, Serik S; Kulmambetova, Gulmira G; Ramankulov, Yerlan Y
Publication Date: 2022-08

Variant appearance in text: rs17882828
PubMed Link: 35815187
Variant Present in the following documents:
  • Supplementary_Data.xlsx, sheet 1
View BVdb publication page



A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Zheng, Ming M; Yang, Haiwei H; Li, Wencheng W; Zhou, Jiajun J; Wei, Jintao J; Wang, Zijie Z; Guo, Miao M; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Tao, Jun J; Ju, Xiaobing X; Tan, Ruoyun R; Wei, Jifu J; Gu, Min M
Publication Date: 2019-12-01

Variant appearance in text: betaglycan: G765R; rs17882828
PubMed Link: 31786580
Variant Present in the following documents:
  • Main text
  • medscimonit-25-9138.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: TGFBR3: G765R
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 50
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TGFBR3: 2293G>C; Gly765Arg; rs17882828
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Identification of genetic susceptibility loci for intestinal Behçet's disease.

Scientific Reports
Kim, Seung Won SW; Jung, Yoon Suk YS; Ahn, Jae Bum JB; Shin, Eun-Soon ES; Jang, Hui Won HW; Lee, Hyun Jung HJ; Il Kim, Tae T; Kim, Do Young DY; Bang, Dongsik D; Kim, Won Ho WH; Cheon, Jae Hee JH
Publication Date: 2017-01-03

Variant appearance in text: rs17882828
PubMed Link: 28045058
Variant Present in the following documents:
  • Main text
  • srep39850.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs17882828
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.

Journal Of Negative Results In Biomedicine
Singh, Krishna K KK; Schmidtke, Joerg J; Keyser, Britta B; Arslan-Kirchner, Mine M
Publication Date: 2012-02-02

Variant appearance in text: TGFBR3: 2293G>C; G765R; rs17882828
PubMed Link: 22300218
Variant Present in the following documents:
  • Main text
  • 1477-5751-11-9.pdf
View BVdb publication page



Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

Stroke
Santiago-Sim, Teresa T; Mathew-Joseph, Sumy S; Pannu, Hariyadarshi H; Milewicz, Dianna M DM; Seidman, Christine E CE; Seidman, J G JG; Kim, Dong H DH
Publication Date: 2009-05

Variant appearance in text: rs17882828
PubMed Link: 19299629
Variant Present in the following documents:
  • Main text
View BVdb publication page