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.V1126V

c.3378A>G

Surrounding Variants

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

1 paper

NM_004747.4

p.E1080K

c.3238G>A

3 papers

NM_004747.4

p.R1072C

c.3214C>T

1 paper

NM_004747.4

p.R1067C

c.3199C>T

1 paper

NM_004747.4

p.P1048P

c.3144G>A

3 papers

NM_004747.4

p.R1027_A1036delFs

c.3081_3106del26

1 paper

NM_004747.4

p.P1009S

c.3025C>T

9 papers

NM_004747.4

p.A1007insFs

c.3020_3021insC

2 papers

NM_004747.4

p.A1007V

c.3020C>T

1 paper

NM_004747.4

p.A1007T

c.3019G>A