GRIN2A c.2063G>C ;(p.G688A)

Variant ID: 16-9916226-C-G

NM_001134407.1(GRIN2A):c.2063G>C;(p.G688A)

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:

Three-dimensional missense tolerance ratio analysis.

Genome Research
Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF
Publication Date: 2021-08

Variant appearance in text: GRIN2A: G688A
PubMed Link: 34301626
Variant Present in the following documents:
  • supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page


Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: GRIN2A: G688A
PubMed Link: 28440294
Variant Present in the following documents:
  • Main text
  • srep46105-s2.xls, sheet 6
  • srep46105-s2.xls, sheet 4
  • srep46105-s2.xls, sheet 7
  • srep46105-s1.pdf
  • srep46105.pdf
View BVdb publication page