GC c.699dup ;(p.S234Qfs*14)

Variant ID: 4-72629126-T-TG

NM_000583.3(GC):c.699dup;(p.S234Qfs*14)

This variant was identified in 4 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: Ser234fs
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 699dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens
Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C
Publication Date: 2018-09

Variant appearance in text: GC: Ser234fs
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 7
  • ppat.1007315.s003.xlsx, sheet 9
View BVdb publication page



Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Publication Date: 2017-11

Variant appearance in text: N/A
PubMed Link: 28991257
Variant Present in the following documents:
View BVdb publication page