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

2 papers

NM_004747.4

p.R249W

c.745C>T

Surrounding Variants

1 paper

NM_004747.4

p.G252R

c.754G>C

1 paper

NM_004747.4

p.E257Q

c.769G>C

1 paper

NM_004747.4

p.R239delFs

c.715_716delCG

1 paper

NM_004747.4

p.R248_Q262del15

c.742_785del45

1 paper

NM_004747.4

p.S264L

c.791C>T

1 paper

NM_004747.4

p.L229P

c.686T>C

1 paper

NM_004747.4

p.L271P

c.812T>C

1 paper

NM_004747.4

p.Y226Y

c.678C>T

1 paper

NM_004747.4

p.Y226D

c.676T>G

1 paper

NM_004747.4

p.E222E

c.666G>A

1 paper

NM_004747.4

p.E222G

c.665A>G

1 paper

NM_004747.4

p.A220G

c.659C>G