Varaico: Literature-Extracted Genetic Variants

DLG4

519 papers

RefSeq Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel...

Pfam Domains

MAGUK_N_PESTaa 2–37UCSCPolyubiquitination (PEST) N-terminal domain of MAGUK

PDZaa 5–89UCSCPDZ domain

PDZaa 100–184UCSCPDZ domain

PDZ_assocaa 185–252UCSCPDZ-associated domain of NMDA receptors

PDZaa 253–331UCSCPDZ domain

SH3_1aa 374–430UCSCSH3 domain

Gene Aliases

HGNC Name

discs large MAGUK scaffold protein 4

HGNC Alias Symbols

PSD-95; PSD95; SAP90; SAP-90

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001321075.3

p.N326S

c.977A>G

Surrounding Variants

1 paper

NM_001321075.3

p.I327V

c.979A>G

1 paper

NM_001321075.3

p.V328A

c.983T>C

1 paper

NM_001365.5

p.G373fs

c.1117_1118fs

1 paper

NM_001321075.3

p.G322A

c.965G>C

3 papers

NM_001365.5

p.G373G

c.1119C>T

1 paper

NM_001365.5

p.E374fs

c.1120_1121fs

2 papers

NM_001321075.3

p.E331A

c.992A>C

1 paper

NM_001321075.3

p.S320F

c.959C>T

7 papers

NM_001321075.3

p.D332G

c.995A>G

NM_001365.5

p.D375G

c.1124A>G

1 paper

NM_001321075.3

p.G333G

c.999T>A

3 papers

NM_001321075.3

p.E334Q

c.1000G>C

1 paper

NM_001365.5

p.E377K

c.1129G>A