GC c.562T>G ;(p.S188A)

Variant ID: 4-72629565-A-C

NM_000583.3(GC):c.562T>G;(p.S188A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 562T>G; S188A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: 562T>G; S188A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The endonuclease domain of the LINE-1 ORF2 protein can tolerate multiple mutations.

Mobile Dna
Kines, Kristine J KJ; Sokolowski, Mark M; deHaro, Dawn L DL; Christian, Claiborne M CM; Baddoo, Melody M; Smither, Madison E ME; Belancio, Victoria P VP
Publication Date: 2016

Variant appearance in text: GC: S188A
PubMed Link: 27099633
Variant Present in the following documents:
  • 13100_2016_Article_64.pdf
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: GC: 562T>G; S188A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Regulation of RhoA signaling by the cAMP-dependent phosphorylation of RhoGDIα.

The Journal Of Biological Chemistry
Oishi, Atsuro A; Makita, Noriko N; Sato, Junichiro J; Iiri, Taroh T
Publication Date: 2012-11-09

Variant appearance in text: GC: S188A
PubMed Link: 23012358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polo-like kinase 1 (Plk1): an Unexpected Player in DNA Replication.

Cell Division
Song, Bing B; Liu, X Shawn XS; Liu, Xiaoqi X
Publication Date: 2012-02-06

Variant appearance in text: GC: S188A
PubMed Link: 22309699
Variant Present in the following documents:
  • Main text
  • 1747-1028-7-3.pdf
View BVdb publication page