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

2 papers

NM_001142699.3

p.V700V

c.2100C>T

Surrounding Variants

1 paper

NM_001142699.3

p.E697D

c.2091G>T

1 paper

NM_001142699.3

p.E697D

c.2091G>C

1 paper

NM_001142699.3

p.R705W

c.2113A>T

1 paper

NM_001142699.3

p.E696Q

c.2086G>C

1 paper

NM_001142699.3

p.G664*

c.1990G>T

1 paper

NM_001142699.3

p.K730_G731delFs

c.2190_2193del4

1 paper

NM_001142699.3

p.G731_S732Splc

c.2193+6T>A