GC c.808_809delinsCG ;(p.S270R)

Variant ID: 4-72623781-GA-CG

NM_000583.3(GC):c.808_809delinsCG;(p.S270R)

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: Ser270Arg
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Small molecules restore the function of mutant CLC5 associated with Dent disease.

Journal Of Cellular And Molecular Medicine
Liu, Jingshu J; Sadeh, Tal T TT; Lippiat, Jonathan D JD; Thakker, Rajesh V RV; Black, Graeme C GC; Manson, Forbes F
Publication Date: 2021-01

Variant appearance in text: GC: S270R
PubMed Link: 33200471
Variant Present in the following documents:
  • Main text
  • JCMM-25-1319.pdf
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Ser270Arg
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Quasispecies composition and evolution of a typical Zika virus clinical isolate from Suriname.

Scientific Reports
van Boheemen, Sander S; Tas, Ali A; Anvar, S Yahya SY; van Grootveld, Rebecca R; Albulescu, Irina C IC; Bauer, Martijn P MP; Feltkamp, Mariet C MC; Bredenbeek, Peter J PJ; van Hemert, Martijn J MJ
Publication Date: 2017-05-24

Variant appearance in text: GC: S270R
PubMed Link: 28539654
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2652.pdf
View BVdb publication page