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_001365.5

p.Q309*

c.925C>T

Surrounding Variants

2 papers

NM_001321075.3

p.S265A

c.793T>G

NM_001365.5

p.S308A

c.922T>G

1 paper

NM_001365.5

p.Y307*

c.921T>G

1 paper

NM_001365.5

p.Y307*

c.921T>A

1 paper

NM_001321075.3

p.H274Y

c.820C>T

2 papers

NM_001321075.3

p.S276C

c.826A>T

1 paper

NM_001321075.3

p.S290F

c.869C>T

1 paper

NM_001321075.3

p.S290C

c.869C>G

2 papers

NM_001321075.3

p.G303R

c.907G>C

2 papers

NM_001321075.3

p.G303R

c.907G>A

1 paper

NM_001321075.3

p.I307I

c.921T>A

1 paper

NM_001321075.3

p.P308S

c.922C>T

3 papers

NM_001365.5

p.R352*

c.1054C>T