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

1–12 of 227 variants

9 papers

NM_004747.4

p.A1007insFs

c.3020_3021insC

6 papers

NM_004747.4

p.L1145L

c.3435C>T

3 papers

NM_004747.4

p.Q140R

c.419A>G

3 papers

NM_004747.4

p.E624Q

c.1870G>C

3 papers

NM_004747.4

p.R1027_A1036delFs

c.3081_3106del26

3 papers

NM_004747.4

p.R1072C

c.3214C>T

3 papers

NM_004747.4

p.D1607N

c.4819G>A

2 papers

NM_004747.4

p.R166H

c.497G>A

2 papers

NM_004747.4

p.R179K

c.536G>A

2 papers

NM_004747.4

p.R249W

c.745C>T

2 papers

NM_004747.4

p.R821*

c.2461C>T

2 papers

NM_004747.4

p.V908L

c.2722G>C