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.S962F

c.2885C>T

Surrounding Variants

1 paper

NM_004747.4

p.P976L

c.2927C>T

1 paper

NM_004747.4

p.Y990H

c.2968T>C

1 paper

NM_004747.4

p.G994C

c.2980G>T

1 paper

NM_004747.4

p.E930G

c.2789A>G

1 paper

NM_004747.4

p.P995T

c.2983C>A

1 paper

NM_004747.4

p.V928A

c.2783T>C

1 paper

NM_004747.4

p.P997P

c.2991T>G

1 paper

NM_004747.4

p.A1007T

c.3019G>A

1 paper

NM_004747.4

p.L917L

c.2751G>A

2 papers

NM_004747.4

p.A1007V

c.3020C>T

9 papers

NM_004747.4

p.A1007insFs

c.3020_3021insC

1 paper

NM_004747.4

p.P1009S

c.3025C>T