GC c.800del ;(p.E267Gfs*17)

Variant ID: 4-72623790-CT-C

NM_000583.3(GC):c.800del;(p.E267Gfs*17)

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: 800delA
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: 800delA
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
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: 800delA
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

The Journal Of Allergy And Clinical Immunology
Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH
Publication Date: 2017-02

Variant appearance in text: GC: 800delA
PubMed Link: 27477328
Variant Present in the following documents:
  • Main text
View BVdb publication page



TP53 mutations induced by BPDE in Xpa-WT and Xpa-Null human TP53 knock-in (Hupki) mouse embryo fibroblasts.

Mutation Research
Kucab, Jill E JE; van Steeg, Harry H; Luijten, Mirjam M; Schmeiser, Heinz H HH; White, Paul A PA; Phillips, David H DH; Arlt, Volker M VM
Publication Date: 2015-03

Variant appearance in text: GC: 800del
PubMed Link: 25847421
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page