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.S167S

c.501T>A

Surrounding Variants

1 paper

NM_001142699.3

p.Q166H

c.498G>T

1 paper

NM_001142699.3

p.Q166H

c.498G>C

1 paper

NM_001142699.3

p.S170delFs

c.509_510delAG

1 paper

NM_001142699.3

p.H168_L172del5

c.502_515del15

1 paper

NM_001142699.3

p.E158fs

c.472_473fs

1 paper

NM_001142699.3

p.E158delFs

c.472delC

1 paper

NM_001142699.3

p.L154P

c.461T>C

1 paper

NM_001142699.3

p.E140K

c.418G>A

1 paper

NM_001142699.3

p.R136Q

c.407G>A

2 papers

NM_001142699.3

p.L134F

c.402A>T

2 papers

NM_001142699.3

p.L134F

c.402A>C

1 paper

NM_001142699.3

p.D131N

c.391G>A