GRIN2A c.1613C>G ;(p.S538*)

Variant ID: 16-9934542-G-C

NM_001134407.1(GRIN2A):c.1613C>G;(p.S538*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Frontiers In Pediatrics
Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L
Publication Date: 2020

Variant appearance in text: GluN2A: 1613C>G
PubMed Link: 33240831
Variant Present in the following documents:
  • Main text
  • fped-08-574803.pdf
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: GRIN2A: S538X
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
View BVdb publication page