GC c.1384T>C ;(p.C462R)

Variant ID: 4-72618246-A-G

NM_000583.3(GC):c.1384T>C;(p.C462R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 1384T>C
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.

Frontiers In Genetics
Fan, Yanbin Y; Xu, Zhifei Z; Li, Xing X; Gao, Feng F; Guo, Enyu E; Chang, Xingzhi X; Wei, Cuijie C; Zhang, Cheng C; Yu, Qing Q; Que, Chengli C; Xiao, Jiangxi J; Yan, Chuanzhu C; Wang, Zhaoxia Z; Yuan, Yun Y; Xiong, Hui H
Publication Date: 2022

Variant appearance in text: GC: 1384T>C
PubMed Link: 35368679
Variant Present in the following documents:
  • Main text
  • fgene-13-825793.pdf
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GC: 1384T>C
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports
Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA
Publication Date: 2018-04-03

Variant appearance in text: GC: 1384T>C
PubMed Link: 29617651
Variant Present in the following documents:
  • NIHMS958971-supplement-5.xlsx, sheet 2
View BVdb publication page



Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07

Variant appearance in text: GC: 1384T>C
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page