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.I1413T

c.4238T>C

Surrounding Variants

1 paper

NM_004747.4

p.Q1416R

c.4247A>G

1 paper

NM_004747.4

p.G1399A

c.4196G>C

2 papers

NM_004747.4

p.G1399D

c.4196G>A

1 paper

NM_004747.4

p.S1435R

c.4303A>C

1 paper

NM_004747.4

p.S1435R

c.4305C>G

1 paper

NM_004747.4

p.S1435R

c.4305C>A

1 paper

NM_004747.4

p.L1394F

c.4182A>T

1 paper

NM_004747.4

p.L1394F

c.4182A>C

1 paper

NM_004747.4

p.K1369R

c.4106A>G

1 paper

NM_004747.4

p.R1349C

c.4045C>T

1 paper

NM_004747.4

p.D1468Y

c.4402G>T

2 papers

NM_004747.4

p.P1481Q

c.4442C>A