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.S812S

c.2436C>T

Surrounding Variants

1 paper

NM_001142699.3

p.H816Y

c.2446C>T

1 paper

NM_001142699.3

p.L772F

c.2314C>T

1 paper

NM_001142699.3

p.H816Y

c.2446C>T

1 paper

NM_001142699.3

p.R822*

c.2464C>T

1 paper

NM_001142699.3

p.G828C

c.2482G>T

1 paper

NM_001142699.3

p.F833I

c.2497T>A

1 paper

NM_001142699.3

p.E851E

c.2553A>G

1 paper

NM_001142702.2

p.A251V

c.752C>T

2 papers

NM_001142699.3

p.F900V

c.2698T>G

1 paper

NM_001142699.3

p.I901V

c.2701A>G

1 paper

NM_001142699.3

p.R904R

c.2712G>A

1 paper

NM_001142699.3

p.K914R

c.2741A>G