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.R474W

c.1420C>T

Surrounding Variants

1 paper

NM_001321075.3

p.R474L

c.1421G>T

1 paper

NM_001321075.3

p.R474Q

c.1421G>A

1 paper

NM_001321075.3

p.A473V

c.1418C>T

1 paper

NM_001321075.3

p.W470L

c.1409G>T

1 paper

NM_001321075.3

p.S478A

c.1432T>G

1 paper

NM_001365.5

p.S521insFs

c.1563dupT

1 paper

NM_001321075.3

p.E481V

c.1442A>T

1 paper

NM_001321075.3

p.D483N

c.1447G>A

2 papers

NM_001365.5

p.H504_V505delFs

c.1510_1513del4

1 paper

NM_001365.5

p.G529delFs

c.1587delC

2 papers

NM_001365.5

p.H504fs

c.1510_1511fs

1 paper

NM_001365.5

p.F530fs

c.1588_1589fs