Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GRIN2B
Variant:
p.L425L
Back to variants list
GRIN2B
NM_000834.5:p.L425L
hg38:chr12:13616508 C>T
Frequencies & domains
Associated Papers
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S et al.
Nature Genetics,
2010
20890276 (PubMed
)
Select a paper to view details