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.S404_V405Splc

c.1213-1G>T

Surrounding Variants

1 paper

NM_001365.5

p.V405fs

c.1213_1214fs

4 papers

NM_001365.5

p.R411*

c.1231C>T

NM_001321075.3

p.R368*

c.1102C>T

1 paper

NM_001321075.3

p.H372Y

c.1114C>T

1 paper

NM_001321075.3

p.E373A

c.1118A>C

1 paper

NM_001321075.3

p.I377N

c.1130T>A

1 paper

NM_001321075.3

p.A382T

c.1144G>A

1 paper

NM_001321075.3

p.V386A

c.1157T>C

1 paper

NM_001321075.3

p.E395A

c.1184A>C

1 paper

NM_001365.5

p.S404S

c.1212G>A

1 paper

NM_001365.5

p.Q401*

c.1201C>T

1 paper

NM_001321075.3

p.R354P

c.1061G>C

1 paper

NM_001321075.3

p.S350C

c.1048A>T