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.C5delFs

c.14_15delAC

Surrounding Variants

3 papers

NM_001321075.3

p.C5S

c.14G>C

3 papers

NM_001321075.3

p.C5S

c.13T>A

2 papers

NM_001321075.3

p.C5fs

c.13_14fs

1 paper

NM_001321075.3

p.M1_I6del0

c.1_18del18

2 papers

NM_001321075.3

p.C3S

c.8G>C

1 paper

NM_001321075.3

p.C3G

c.7T>G

2 papers

NM_001321075.3

p.C3S

c.7T>A

1 paper

NM_001321075.3

p.M1insFs

c.2dupT

1 paper

NM_001321075.3

p.M1I

c.3G>A

1 paper

NM_001321075.3

p.M1T

c.2T>C

1 paper

NM_001321075.3

p.M1V

c.1A>G

1 paper

NM_001365.5

p.A23delFs

c.67delC