CELSR2 c.6986G>A ;(p.S2329N)

Variant ID: 1-109812321-G-A

NM_001408.2(CELSR2):c.6986G>A;(p.S2329N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CELSR2: S2329N; rs147655719
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications
von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M
Publication Date: 2020-01-16

Variant appearance in text: CELSR2: S2329N
PubMed Link: 31949146
Variant Present in the following documents:
  • 41467_2019_13915_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports
Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J
Publication Date: 2017-08-24

Variant appearance in text: CELSR2: S2329N; rs147655719
PubMed Link: 28839234
Variant Present in the following documents:
  • 41598_2017_10175_MOESM3_ESM.xls, sheet 1
  • 41598_2017_10175_MOESM4_ESM.xls, sheet 1
View BVdb publication page