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

3 papers

NM_001321075.3

p.Y14*

c.42C>G

Surrounding Variants

1 paper

NM_001321075.3

p.R13H

c.38G>A

1 paper

NM_001321075.3

p.Y14_Q15del2

c.40_44del6

1 paper

NM_001321075.3

p.R13C

c.37C>T

1 paper

NM_001321075.3

p.K11insFs

c.32dupA

1 paper

NM_001321075.3

p.E17E

c.51A>G

1 paper

NM_001321075.3

p.K11R

c.32A>G

2 papers

NM_001321075.3

p.D18V

c.53A>T

1 paper

NM_001321075.3

p.D18G

c.53A>G

1 paper

NM_001321075.3

p.T19A

c.55A>G

1 paper

NM_001321075.3

p.P21R

c.62C>G

1 paper

NM_001321075.3

p.P21_L22ins5

c.63_64ins15

1 paper

NM_001321075.3

p.L22Q

c.65T>A