Varaico: Literature-Extracted Genetic Variants

DLG3

189 papers

RefSeq Summary

This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negativel...

Pfam Domains

PDZaa 131–215UCSCPDZ domain

PDZaa 226–310UCSCPDZ domain

PDZ_assocaa 311–385UCSCPDZ-associated domain of NMDA receptors

Gene Aliases

HGNC Name

discs large MAGUK scaffold protein 3

HGNC Alias Symbols

NE-Dlg; SAP102; SAP-102; NEDLG; KIAA1232; MRX90; PPP1R82

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021120.4

p.K88N

c.264G>C

Surrounding Variants

1 paper

NM_021120.4

p.K88N

c.264G>T

1 paper

NM_021120.4

p.P87P

c.261T>A

1 paper

NM_021120.4

p.P84L

c.251C>T

1 paper

NM_021120.4

p.R80fs

c.238_239fs

1 paper

NM_021120.4

p.G79_R80insFs

c.237_238ins17

1 paper

NM_021120.4

p.G102S

c.304G>A

1 paper

NM_021120.4

p.K72N

c.216G>C

1 paper

NM_021120.4

p.K72N

c.216G>T

1 paper

NM_021120.4

p.W106insFs

c.316_317insA

1 paper

NM_021120.4

p.P69R

c.206C>G

1 paper

NM_021120.4

p.E108A

c.323A>C

1 paper

NM_021120.4

p.P69S

c.205C>T