TAF1L c.3562C>T ;(p.R1188C)

Variant ID: 9-32632016-G-A

NM_153809.2(TAF1L):c.3562C>T;(p.R1188C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: TAF1L: R1188C
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: TAF1L: R1188C
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: TAF1L: R1188C
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.

Frontiers In Genetics
Sun, Hairui H; Han, Lu L; Zhang, Xiaoshan X; Hao, Xiaoyan X; Zhou, Xiaoxue X; Pan, Ruiqing R; Zhang, Hongjia H; He, Yihua Y
Publication Date: 2020

Variant appearance in text: TAF1L: 3562C>T; R1188C; rs766498802
PubMed Link: 33304389
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gopal, Raj K RK; Calvo, Sarah E SE; Shih, Angela R AR; Chaves, Frances L FL; McGuone, Declan D; Mick, Eran E; Pierce, Kerry A KA; Li, Yang Y; Garofalo, Andrea A; Van Allen, Eliezer M EM; Clish, Clary B CB; Oliva, Esther E; Mootha, Vamsi K VK
Publication Date: 2018-07-03

Variant appearance in text: TAF1L: R1188C
PubMed Link: 29915083
Variant Present in the following documents:
  • pnas.1711888115.sd01.xlsx, sheet 3
View BVdb publication page