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

Selected Variant

2 papers

NM_001366216.1

p.T489R

c.1466C>G

NM_001366207.1

p.T507R

c.1520C>G

Surrounding Variants

1 paper

NM_001366207.1

p.P514L

c.1541C>T

1 paper

NM_004087.2

p.V518L

c.1552G>C

1 paper

NM_001366207.1

p.V482V

c.1446A>T

1 paper

NM_001366207.1

p.V482E

c.1445T>A