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.E222G

c.665A>G

Surrounding Variants

1 paper

NM_004747.4

p.E222E

c.666G>A

1 paper

NM_004747.4

p.A220G

c.659C>G

1 paper

NM_004747.4

p.Y226D

c.676T>G

1 paper

NM_004747.4

p.Y226Y

c.678C>T

1 paper

NM_004747.4

p.E217E

c.651G>A

1 paper

NM_004747.4

p.E217*

c.649G>T

1 paper

NM_004747.4

p.A212D

c.635C>A

1 paper

NM_004747.4

p.A212T

c.634G>A

1 paper

NM_004747.4

p.L205P

c.614T>C

1 paper

NM_004747.4

p.S204G

c.610A>G

1 paper

NM_004747.4

p.Q203H

c.609G>T

1 paper

NM_004747.4

p.D201N

c.601G>A