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.R166C

c.496C>T

Surrounding Variants

2 papers

NM_004747.4

p.R166H

c.497G>A

1 paper

NM_004747.4

p.A170T

c.508G>A

1 paper

NM_004747.4

p.E159G

c.476A>G

1 paper

NM_004747.4

p.G173R

c.517G>C

1 paper

NM_004747.4

p.E159Q

c.475G>C

1 paper

NM_004747.4

p.R158P

c.473G>C

1 paper

NM_004747.4

p.T174M

c.521C>T

1 paper

NM_004747.4

p.A175S

c.523G>T

1 paper

NM_004747.4

p.T157S

c.469A>T

1 paper

NM_004747.4

p.H172_A175del4

c.514_524del12

2 papers

NM_004747.4

p.R179K

c.536G>A

1 paper

NM_004747.4

p.N143N

c.429T>C