Varaico: Literature-Extracted Genetic Variants

DLG5

193 papers

RefSeq Summary

This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically ina...

Pfam Domains

Takusanaa 128–213UCSCTakusan

PDZaa 627–707UCSCPDZ domain

PDZaa 715–793UCSCPDZ domain

PDZaa 1350–1426UCSCPDZ domain

dbPDZ_assocaa 1427–1499UCSCUnstructured region between two PDZ domains on Dlg5

Guanylate_kinaa 1771–1907UCSCGuanylate kinase

Gene Aliases

HGNC Name

discs large MAGUK scaffold protein 5

HGNC Alias Symbols

P-dlg; KIAA0583

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004747.4

p.K715_V716del2

c.2143_2147del6

Surrounding Variants

1 paper

NM_004747.4

p.N723K

c.2169C>A

1 paper

NM_004747.4

p.A701A

c.2103C>T

1 paper

NM_004747.4

p.G700W

c.2098G>T

1 paper

NM_004747.4

p.A694S

c.2080G>T

1 paper

NM_004747.4

p.A691D

c.2072C>A

1 paper

NM_004747.4

p.L683L

c.2049C>T

1 paper

NM_004747.4

p.V671I

c.2011G>A

1 paper

NM_004747.4

p.G731C

c.2191G>T

1 paper

NM_004747.4

p.A741A

c.2223C>T

1 paper

NM_004747.4

p.A742V

c.2225C>T

1 paper

NM_004747.4

p.A749A

c.2247C>G

1 paper

NM_004747.4

p.A665G

c.1994C>G