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.T1586M

c.4757C>T

Surrounding Variants

2 papers

NM_004747.4

p.A1588S

c.4762G>T

1 paper

NM_004747.4

p.D1594G

c.4781A>G

1 paper

NM_004747.4

p.G1551C

c.4651G>T

1 paper

NM_004747.4

p.D1603N

c.4807G>A

3 papers

NM_004747.4

p.D1607N

c.4819G>A

1 paper

NM_004747.4

p.V1608M

c.4822G>A

1 paper

NM_004747.4

p.G1649R

c.4945G>C

1 paper

NM_004747.4

p.G1649R

c.4945G>A

1 paper

NM_004747.4

p.A1527delFs

c.4581delG

1 paper

NM_004747.4

p.A1527fs

c.4579_4580fs

2 papers

NM_004747.4

p.Q1509delins

c.4526_4527delinsTT

2 papers

NM_004747.4

p.Q1509L

c.4526A>T