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

3 papers

NM_001321075.3

p.S561A

c.1681T>G

Surrounding Variants

1 paper

NM_001321075.3

p.P564S

c.1690C>T

1 paper

NM_001321075.3

p.E554_V563del10

c.1660_1688del30

2 papers

NM_001365.5

p.K601*

c.1801A>T

1 paper

NM_001365.5

p.H608Y

c.1822C>T

1 paper

NM_001365.5

p.H608Splc

c.1822+1G>A

1 paper

NM_001321075.3

p.D549A

c.1646A>C

1 paper

NM_001321075.3

p.A547del1

c.1639_1641delGGC

1 paper

NM_001321075.3

p.A547insFs

c.1640_1641insA

1 paper

NM_001321075.3

p.A547insFs

c.1639_1640insA

1 paper

NM_001321075.3

p.D545A

c.1634A>C

1 paper

NM_001321075.3

p.P542A

c.1624C>G

1 paper

NM_001321075.3

p.L540F

c.1618C>T