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

3 papers

NM_004747.4

p.Q140R

c.419A>G

Surrounding Variants

1 paper

NM_004747.4

p.Q140*

c.418C>T

1 paper

NM_004747.4

p.T138N

c.413C>A

1 paper

NM_004747.4

p.N143N

c.429T>C

1 paper

NM_004747.4

p.P134L

c.401C>T

1 paper

NM_004747.4

p.P131P

c.393G>A

1 paper

NM_004747.4

p.K129*

c.385A>T

1 paper

NM_004747.4

p.T126S

c.377C>G

1 paper

NM_004747.4

p.T126S

c.376A>T

1 paper

NM_004747.4

p.G125Splc

c.374-5C>T

1 paper

NM_004747.4

p.T157S

c.469A>T

1 paper

NM_004747.4

p.R158P

c.473G>C

1 paper

NM_004747.4

p.E159Q

c.475G>C