TG c.6130C>T ;(p.R2044C)

Variant ID: 8-133984917-C-T

NM_003235.4(TG):c.6130C>T;(p.R2044C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 6130C>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: TG: 6130C>T; R2044C; rs751735110
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
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: TG: 6130C>T
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: TG: 6130C>T; Arg2044Cys
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

Thyroid : Official Journal Of The American Thyroid Association
Löf, Christoffer C; Patyra, Konrad K; Kuulasmaa, Teemu T; Vangipurapu, Jagadish J; Undeutsch, Henriette H; Jaeschke, Holger H; Pajunen, Tuulia T; Kero, Andreina A; Krude, Heiko H; Biebermann, Heike H; Kleinau, Gunnar G; Kühnen, Peter P; Rantakari, Krista K; Miettinen, Päivi P; Kirjavainen, Turkka T; Pursiheimo, Juha-Pekka JP; Mustila, Taina T; Jääskeläinen, Jarmo J; Ojaniemi, Marja M; Toppari, Jorma J; Ignatius, Jaakko J; Laakso, Markku M; Kero, Jukka J
Publication Date: 2016-09

Variant appearance in text: TG: 6130C>T; R2044C
PubMed Link: 27373559
Variant Present in the following documents:
  • Main text
  • thy.2016.0016.pdf
View BVdb publication page