THBS1 c.1567A>C ;(p.T523P)

Variant ID: 15-39880822-A-C

NM_003246.2(THBS1):c.1567A>C;(p.T523P)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Nanotechnology Lighting the Way for Gene Therapy in Ophthalmopathy: From Opportunities toward Applications.

Molecules (Basel, Switzerland)
Ren, Weiming W; Duan, Suyang S; Dai, Chao C; Xie, Chunbao C; Jiang, Lingxi L; Shi, Yi Y
Publication Date: 2023-04-15

Variant appearance in text: rs2292305
PubMed Link: 37110734
Variant Present in the following documents:
  • Main text
  • molecules-28-03500.pdf
View BVdb publication page



Association of THBS1 genetic variants and mRNA expression with the risks of ischemic stroke and long-term death after stroke.

Frontiers In Aging Neuroscience
Chen, Changying C; Chen, Xuemei X; Yang, Siyuan S; Li, Qingqing Q; Ren, Zhanyun Z; Wang, Lu L; Jiang, Yuzhang Y; Gu, Xincheng X; Liu, Fangyuan F; Mu, Jialing J; Liu, Lihua L; Wang, Yi Y; Li, Junrong J; Yu, Yanhua Y; Zhang, Jun J; Shen, Chong C
Publication Date: 2022

Variant appearance in text: rs2292305
PubMed Link: 36212039
Variant Present in the following documents:
  • Main text
  • fnagi-14-1006473.pdf
View BVdb publication page



The effects of genotype on inflammatory response in hippocampal progenitor cells: A computational approach.

Brain, Behavior, & Immunity - Health
Lee, Hyunah H; Metz, Amelie A; McDiarmid, Amina A; Palmos, Alish A; Lee, Sang H SH; Curtis, Charles J CJ; Patel, Hamel H; Newhouse, Stephen J SJ; Thuret, Sandrine S
Publication Date: 2021-08

Variant appearance in text: rs2292305
PubMed Link: 34345870
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



THBS1 (thrombospondin-1).

Atlas Of Genetics And Cytogenetics In Oncology And Haematology
Isenberg, Jeffrey S JS; Roberts, David D DD
Publication Date: 2020

Variant appearance in text: rs2292305
PubMed Link: 33244322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: THBS1: T523P
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs2292305
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
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: rs2292305
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs2292305
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Polymorphism in THBS1 gene is associated with post-refractive surgery chronic ocular surface inflammation.

Ophthalmology
Contreras-Ruiz, Laura L; Ryan, Denise S DS; Sia, Rose K RK; Bower, Kraig S KS; Dartt, Darlene A DA; Masli, Sharmila S
Publication Date: 2014-07

Variant appearance in text: rs2292305
PubMed Link: 24679443
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association between genetic variants in angiogenesis and inflammation pathway genes and breast cancer survival among Chinese women.

Cancer Epidemiology
Dorjgochoo, Tsogzolmaa T; Zheng, Ying Y; Gao, Yu-Tang YT; Ma, Xiangyu X; Long, Jirong J; Bao, Pingping P; Zhang, Ben B; Wen, Wanqing W; Lu, Wei W; Zheng, Wei W; Shu, Xiao Ou XO; Beeghly-Fadiel, Alicia A
Publication Date: 2013-10

Variant appearance in text: rs2292305
PubMed Link: 23850146
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2292305
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Segment-specific genetic effects on carotid intima-media thickness: the Northern Manhattan study.

Stroke
Liao, Yi-Chu YC; Lin, Hsiu-Fen HF; Rundek, Tatjana T; Cheng, Rong R; Guo, Yuh-Cherng YC; Sacco, Ralph L RL; Juo, Suh-Hang Hank SH
Publication Date: 2008-12

Variant appearance in text: rs2292305
PubMed Link: 18787196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Plos Genetics
Serre, David D; Gurd, Scott S; Ge, Bing B; Sladek, Robert R; Sinnett, Donna D; Harmsen, Eef E; Bibikova, Marina M; Chudin, Eugene E; Barker, David L DL; Dickinson, Todd T; Fan, Jian-Bing JB; Hudson, Thomas J TJ
Publication Date: 2008-02-29

Variant appearance in text: rs2292305
PubMed Link: 18454203
Variant Present in the following documents:
  • Main text
  • pgen.1000006.pdf
View BVdb publication page