GC c.1348T>G ;(p.S450A)

Variant ID: 4-72618282-A-C

NM_000583.3(GC):c.1348T>G;(p.S450A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: 1348T>G
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Rab11-FIP3 is a cell cycle-regulated phosphoprotein.

Bmc Cell Biology
Collins, Louise L LL; Simon, Glenn G; Matheson, Johanne J; Wu, Christine C; Miller, M Clare MC; Otani, Tetsuhisa T; Yu, Xinzi X; Hayashi, Shigeo S; Prekeris, Rytis R; Gould, Gwyn W GW
Publication Date: 2012-03-08

Variant appearance in text: GC: S450A
PubMed Link: 22401586
Variant Present in the following documents:
  • Main text
  • 1471-2121-13-4.pdf
View BVdb publication page



Bulk segregant analysis followed by high-throughput sequencing reveals the Neurospora cell cycle gene, ndc-1, to be allelic with the gene for ornithine decarboxylase, spe-1.

Eukaryotic Cell
Pomraning, Kyle R KR; Smith, Kristina M KM; Freitag, Michael M
Publication Date: 2011-06

Variant appearance in text: GC: S450A
PubMed Link: 21515825
Variant Present in the following documents:
  • Main text
View BVdb publication page