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OXCT1 c.173C>T ;(p.T58M)
Variant ID: 5-41862758-G-A
NM_000436.3(
OXCT1
):c.173C>T;(p.T58M)
This variant was identified in 10 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: OXCT1: T58M; rs75134564
PubMed Link:
36607615
Variant Present in the following documents:
can-22-2224_table_s8_suppst8.xlsx, sheet 15
View BVdb publication page
Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.
Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01
Variant appearance in text: OXCT1: 173C>T; Thr58Met
PubMed Link:
36593066
Variant Present in the following documents:
jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.
Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02
Variant appearance in text: OXCT1: T58M; rs75134564
PubMed Link:
35115730
Variant Present in the following documents:
41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
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: OXCT1: T58M
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 54
View BVdb publication page
Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.
Cell Death & Disease
Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J
Publication Date: 2019-02-04
Variant appearance in text: OXCT1: 173C>T; T58M; rs75134564
PubMed Link:
30718471
Variant Present in the following documents:
41419_2019_1313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing.
Oncotarget
Li, Ying Y; Lai-Han Leung, Elaine E; Pan, Hudan H; Yao, Xiaojun X; Huang, Qingchun Q; Wu, Min M; Xu, Ting T; Wang, Yuwei Y; Cai, Jun J; Li, Runze R; Liu, Wei W; Liu, Liang L
Publication Date: 2017-12-19
Variant appearance in text: OXCT1: Thr58Met; rs75134564
PubMed Link:
29340042
Variant Present in the following documents:
Main text
oncotarget-08-111119.pdf
View BVdb publication page
Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.
Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26
Variant appearance in text: OXCT1: T58M
PubMed Link:
29088863
Variant Present in the following documents:
oncotarget-08-75264-s003.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: rs75134564
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: OXCT1: T58M
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Journal Of Inherited Metabolic Disease
Shafqat, Naeem N; Kavanagh, Kate L KL; Sass, Jörn Oliver JO; Christensen, Ernst E; Fukao, Toshiyuki T; Lee, Wen Hwa WH; Oppermann, Udo U; Yue, Wyatt W WW
Publication Date: 2013-11
Variant appearance in text: SCOT: 173C>T
PubMed Link:
23420214
Variant Present in the following documents:
Main text
10545_2013_Article_9589.pdf
View BVdb publication page