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.K43I

c.128A>T

Surrounding Variants

1 paper

NM_001142699.3

p.L41S

c.122T>C

1 paper

NM_001142699.3

p.T47I

c.140C>T

1 paper

NM_001142699.3

p.I34_A37delFs

c.100_109del10

1 paper

NM_001142699.3

p.E35K

c.103G>A

1 paper

NM_001142699.3

p.P52L

c.155C>T

1 paper

NM_001142699.3

p.C53insFs

c.157dupT

2 papers

NM_001142699.3

p.R56*

c.166A>T

1 paper

NM_001142699.3

p.R56_Q58delFs

c.168_172del5

1 paper

NM_001142699.3

p.V21insFs

c.61_62ins4

1 paper

NM_001142699.3

p.F18L

c.54T>G

1 paper

NM_001142699.3

p.F18L

c.54T>A

1 paper

NM_001142699.3

p.F18L

c.52T>C