ABCA1 c.3271A>C ;(p.M1091L)

Variant ID: 9-107581135-T-G

NM_005502.3(ABCA1):c.3271A>C;(p.M1091L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: ABCA1: 3271A>C; Met1091Leu
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 4
View BVdb publication page



Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

Plos Genetics
Brunham, Liam R LR; Singaraja, Roshni R RR; Pape, Terry D TD; Kejariwal, Anish A; Thomas, Paul D PD; Hayden, Michael R MR
Publication Date: 2005-12

Variant appearance in text: ABCA1: M1091L
PubMed Link: 16429166
Variant Present in the following documents:
  • Main text
  • pgen.0010083.pdf
View BVdb publication page