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.P1157S

c.3469C>T

Surrounding Variants

6 papers

NM_004747.4

p.L1145L

c.3435C>T

1 paper

NM_004747.4

p.Y1169H

c.3505T>C

1 paper

NM_004747.4

p.P1173L

c.3518C>T

1 paper

NM_004747.4

p.S1174F

c.3521C>T

1 paper

NM_004747.4

p.T1183A

c.3547A>G

1 paper

NM_004747.4

p.S1190F

c.3569C>T

1 paper

NM_004747.4

p.R1193Q

c.3578G>A

1 paper

NM_004747.4

p.G1217A

c.3650G>C

1 paper

NM_004747.4

p.V1126V

c.3378A>G

1 paper

NM_004747.4

p.Q1108fs

c.3322_3323fs

1 paper

NM_004747.4

p.A1090T

c.3268G>A

2 papers

NM_004747.4

p.P1089L

c.3266C>T