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

2 papers

NM_001321075.3

p.S398C

c.1192A>T

Surrounding Variants

1 paper

NM_001365.5

p.R442*

c.1324C>T

1 paper

NM_001365.5

p.E444*

c.1330G>T

1 paper

NM_001321075.3

p.E401A

c.1202A>C

1 paper

NM_001321075.3

p.K403*

c.1207A>T

1 paper

NM_001321075.3

p.R408G

c.1222C>G

2 papers

NM_001321075.3

p.L411F

c.1231C>T

1 paper

NM_001321075.3

p.T420A

c.1258A>G

2 papers

NM_001321075.3

p.A421V

c.1262C>T

1 paper

NM_001321075.3

p.S422A

c.1264T>G

1 paper

NM_001321075.3

p.R424P

c.1271G>C

1 paper

NM_001321075.3

p.K428Q

c.1282A>C

1 paper

NM_001365.5

p.Y475fs

c.1423_1424fs