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.R356*

c.1066C>T

Surrounding Variants

1 paper

NM_001321075.3

p.I314T

c.941T>C

1 paper

NM_001365.5

p.P354delFs

c.1061delG

1 paper

NM_001365.5

p.P354fs

c.1060_1061fs

1 paper

NM_001321075.3

p.R309L

c.926G>T

1 paper

NM_001321075.3

p.D306_R309del0

c.917_925del9

3 papers

NM_001365.5

p.R352*

c.1054C>T

1 paper

NM_001321075.3

p.H317R

c.950A>G

1 paper

NM_001321075.3

p.P308S

c.922C>T

1 paper

NM_001321075.3

p.I307I

c.921T>A

1 paper

NM_001321075.3

p.S320F

c.959C>T

1 paper

NM_001321075.3

p.G322A

c.965G>C

2 papers

NM_001321075.3

p.G303R

c.907G>C