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

1–12 of 160 variants

2 papers

NM_001142699.3

p.R56*

c.166A>T

2 papers

NM_001142699.3

p.L134F

c.402A>T

2 papers

NM_001142699.3

p.L134F

c.402A>C

2 papers

NM_001142699.3

p.E365K

c.1093G>A

2 papers

NM_001142699.3

p.V700V

c.2100C>T

2 papers

NM_001142699.3

p.F900V

c.2698T>G

1 paper

NM_001351274.2

p.D7insFs

c.21dupT

1 paper

NM_001351274.2

p.A11insFs

c.31dupG

1 paper

NM_001142699.3

p.M1V

c.1A>G

1 paper

NM_001142699.3

p.M1insFs

c.2dupT

1 paper

NM_001142699.3

p.M1insFs

c.3dupG

1 paper

NM_001142699.3

p.F4insFs

c.11dupT