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.W507C

c.1521G>C

Surrounding Variants

1 paper

NM_001321075.3

p.W507C

c.1521G>T

1 paper

NM_001321075.3

p.S511F

c.1532C>T

1 paper

NM_001365.5

p.G558insFs

c.1672_1673ins4

1 paper

NM_001321075.3

p.G515S

c.1543G>A

2 papers

NM_001365.5

p.G558Splc

c.1672+2T>C

1 paper

NM_001321075.3

p.W499C

c.1497G>T

1 paper

NM_001321075.3

p.W499C

c.1497G>C

1 paper

NM_001365.5

p.W542*

c.1626G>A

2 papers

NM_001321075.3

p.W499*

c.1496G>A

NM_001365.5

p.W542*

c.1625G>A

1 paper

NM_001365.5

p.R540*

c.1618C>T

1 paper

NM_001365.5

p.R539*

c.1615C>T

1 paper

NM_001321075.3

p.R493R

c.1479G>C