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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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