AutismKB 2.0

Variant Details for GRIN2B


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Basic Information Top
Gene Symbol:GRIN2B ( MGC142178,MGC142180,NMDAR2B,NR2B,hNR3 )
Gene Full Name: glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Band: 12p13.1
Quick LinksEntrez ID:2904; OMIM: 138252; Uniprot ID:NMDE2_HUMAN; ENSEMBL ID: ENSG00000150086; HGNC ID: 4586
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 0 20 0 22 1 0 43
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
12 13722953 Sanger sequencing O'Roak BJ, 2011
12 14019043 * +G/* p.Ser34GlnfsX25 Sanger sequencing O'Roak BJ, 2012
12 13768560 C Y p.Cys456Tyr Sanger sequencing deleterious0.9369 O'Roak BJ, 2012
12 13764762 C Y p.Trp559Unk Sanger sequencing O'Roak BJ, 2012
12 13722953 T Y c.2172-2A>G Sanger sequencing O'Roak BJ, 2012
12 13768129 A C c.1573T>G p.Phe525Val PCR and Sanger sequencing deleterious0.9369 O'Roak BJ, 2014
12 13768147 G A/G c.1555C>T p.Arg519* Sanger sequencing Wang T, 2016
12 13720165 T c.2384_2391del Stessman HA, 2017
12 13768467 C G c.1460G>C deleterious0.9369 Stessman HA, 2017
12 13768551 C T c.1376G>A p.Gly459Glu deleterious0.9369 Stessman HA, 2017
12 14019043 GGGGGGGGC c.92_99delGCCCCCCCinsGCCCCCCCC p.Ser34GlnfsTer25 Stessman HA, 2017
0 c.737C>A p.(S246*) Trujillano D, 2017
0 Nilsson D, 2017
12 13768560 C T c.1367G>A p.Cys456Tyr Y deleterious0.9011 O'Roak BJ, 2014
12 13764762 C T c.1677G>A p.Trp559Ter Y O'Roak BJ, 2014
12 14019043 T TG c.99dupC p.Ser34GlnfsTer25 Y O'Roak BJ, 2014
12 14127776 p.Ser34GlnfsX25 O'Roak BJ, 2012
12 13877293 C p.Cys456Tyr O'Roak BJ, 2012
12 13873495 C p.Trp559X O'Roak BJ, 2012
12 13831686 T c.2172-2A>G O'Roak BJ, 2012
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
12 13715854 C A/C Y Wang T, 2016
12 13715902 G A/G Y Wang T, 2016
12 13715916 G A/G Y Wang T, 2016
12 13716156 A A/G Y Wang T, 2016
12 13717054 C C/T Yneutral0.6407 Wang T, 2016
12 14019049 G G/T Y Wang T, 2016
12 13716157 T C/T Y Wang T, 2016
12 13717337 G C/G Y Wang T, 2016
12 13716667 C C/T Y Wang T, 2016
12 13716489 G A/G Y Wang T, 2016
12 13769519 C C/T Y Wang T, 2016
12 14019091 C T c.52G>A V18I Takasaki Y, 2016
12 13764671 C T c.1768G>A A590T Takasaki Y, 2016
12 13717054 C T c.3118G>A G1040S Takasaki Y, 2016
12 13716876 C T c.3296G>A R1099H Takasaki Y, 2016
12 13716297 T C c.3875A>G K1292R Takasaki Y, 2016
12 13906652 G A c.609C>T Takasaki Y, 2016
12 13906490 G A c.771C>T Takasaki Y, 2016
12 13764650 C T c.1780+9G>A Takasaki Y, 2016
12 13724727 G A c.2171+11C>T Takasaki Y, 2016
12 13716512 G C c.3660C>G Takasaki Y, 2016
12 13715936 C T c.4236G>A Takasaki Y, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Myers, 2011
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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