TGFBR3 c.519A>G ;(p.S173=)

Variant ID: 1-92200382-T-C

NM_003243.4(TGFBR3):c.519A>G;(p.S173=)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: TGFBR3: S173S; rs2306888
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: TGFBR3: Ser173Ser; rs2306888
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells.

Journal Of Cellular And Molecular Medicine
Shinohara, Tamao T; Urayama, Kevin Y KY; Watanabe, Atsushi A; Akahane, Koshi K; Goi, Kumiko K; Huang, Meixian M; Kagami, Keiko K; Abe, Masako M; Sugita, Kanji K; Okada, Yukinori Y; Goto, Hiroaki H; Minegishi, Masayoshi M; Iwamoto, Shotaro S; Inukai, Takeshi T
Publication Date: 2020-11

Variant appearance in text: rs2306888
PubMed Link: 33002292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Betaglycan Gene (TGFBR3) Polymorphism Is Associated with Increased Risk of Endometrial Cancer.

Journal Of Clinical Medicine
Zakrzewski, Piotr K PK; Forma, Ewa E; Cygankiewicz, Adam I AI; Bryś, Magdalena M; Wójcik-Krowiranda, Katarzyna K; Bieńkiewicz, Andrzej A; Semczuk, Andrzej A; Krajewska, Wanda M WM
Publication Date: 2020-09-24

Variant appearance in text: betaglycan: Ser173=; rs2306888
PubMed Link: 32987826
Variant Present in the following documents:
  • Main text
  • jcm-09-03082.pdf
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: TGFBR3: S173S; rs2306888
PubMed Link: 31786580
Variant Present in the following documents:
  • Main text
  • medscimonit-25-9138.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2306888
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TGFBR3: S173S; rs2306888
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page