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.P258S

c.772C>T

Surrounding Variants

1 paper

NM_001321075.3

p.Y255_P257del3

c.763_770del9

1 paper

NM_001365.5

p.S306Splc

c.916+2T>C

1 paper

NM_001365.5

p.S306Splc

c.916+4A>G

1 paper

NM_001321075.3

p.A249S

c.745G>T

1 paper

NM_001321075.3

p.K245N

c.735G>T

1 paper

NM_001321075.3

p.K245N

c.735G>C

1 paper

NM_001321075.3

p.Y236S

c.707A>C

3 papers

NM_001321075.3

p.L232P

c.695T>C

1 paper

NM_001321075.3

p.L232L

c.694C>T

1 paper

NM_001321075.3

p.A231V

c.692C>T

1 paper

NM_001321075.3

p.V229E

c.686T>A

1 paper

NM_001321075.3

p.D227H

c.679G>C