Varaico: Literature-Extracted Genetic Variants

DLG1

187 papers

RefSeq Summary

This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synap...

Pfam Domains

L27_1aa 6–64UCSCL27_1

MAGUK_N_PESTaa 107–190UCSCPolyubiquitination (PEST) N-terminal domain of MAGUK

PDZaa 191–275UCSCPDZ domain

PDZaa 286–370UCSCPDZ domain

PDZ_assocaa 371–432UCSCPDZ-associated domain of NMDA receptors

PDZaa 433–511UCSCPDZ domain

Gene Aliases

HGNC Name

discs large MAGUK scaffold protein 1

HGNC Alias Symbols

SAP97; SAP-97; hdlg; DLGH1; dJ1061C18.1.1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 130 variants

5 papers

NM_001366207.1

p.M1insFs

c.2dupT

5 papers

NM_001366207.1

p.P888L

c.2663C>T

3 papers

NM_001366207.1

p.I125T

c.374T>C

3 papers

NM_001366207.1

p.R519H

c.1556G>A

2 papers

NM_001366207.1

p.M1V

c.1A>G

2 papers

NM_001366207.1

p.R10G

c.28A>G

2 papers

NM_001366207.1

p.K21E

c.61A>G

2 papers

NM_001366207.1

p.T59A

c.175A>G

2 papers

NM_001366207.1

p.S138S

c.414A>G

2 papers

NM_001366207.1

p.K140R

c.419A>G

2 papers

NM_001366216.1

p.T489R

c.1466C>G

2 papers

NM_001366216.1

p.H507Q

c.1521T>A