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.S350C

c.1048A>T

Surrounding Variants

1 paper

NM_001321075.3

p.D348G

c.1043A>G

1 paper

NM_001321075.3

p.R354P

c.1061G>C

1 paper

NM_001321075.3

p.A343P

c.1027G>C

2 papers

NM_001321075.3

p.A343T

c.1027G>A

3 papers

NM_001365.5

p.F383_L385delFs

c.1147_1154del8

NM_001128827.4

p.F337_L339delFs

c.1009_1016del8

1 paper

NM_001365.5

p.Q401*

c.1201C>T

1 paper

NM_001321075.3

p.L342L

c.1024C>T

2 papers

NM_001365.5

p.F383fs

c.1147_1148fs

1 paper

NM_001321075.3

p.I338M

c.1014C>G

1 paper

NM_001365.5

p.S404S

c.1212G>A

1 paper

NM_001321075.3

p.G335A

c.1004G>C

1 paper

NM_001321075.3

p.G335D

c.1004G>A