Varaico: Literature-Extracted Genetic Variants

DLG2

139 papers

RefSeq Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to f...

Pfam Domains

L27_1aa 6–64UCSCL27_1

MAGUK_N_PESTaa 15–97UCSCPolyubiquitination (PEST) N-terminal domain of MAGUK

PDZaa 98–182UCSCPDZ domain

MAGUK_N_PESTaa 131–213UCSCPolyubiquitination (PEST) N-terminal domain of MAGUK

Gene Aliases

HGNC Name

discs large MAGUK scaffold protein 2

HGNC Alias Symbols

PSD-93; PSD93; chapsyn-110; PPP1R58

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142699.3

p.R431S

c.1293G>C

Surrounding Variants

1 paper

NM_001142699.3

p.R431S

c.1293G>T

1 paper

NM_001142699.3

p.P434A

c.1300C>G

1 paper

NM_001142699.3

p.P434fs

c.1300_1301fs

1 paper

NM_001142699.3

p.T422insFs

c.1264dupA

1 paper

NM_001142699.3

p.T422N

c.1265C>A

1 paper

NM_001142699.3

p.P405L

c.1214C>T

1 paper

NM_001142699.3

p.S401Y

c.1202C>A

1 paper

NM_001142699.3

p.S401Splc

c.1202-2A>G

1 paper

NM_001142699.3

p.T390I

c.1169C>T

1 paper

NM_001142699.3

p.T390S

c.1169C>G

2 papers

NM_001142699.3

p.E365K

c.1093G>A