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

1 paper

NM_004087.2

p.N606K

c.1818C>G

Surrounding Variants

1 paper

NM_004087.2

p.N606K

c.1818C>A

1 paper

NM_001366207.1

p.G577E

c.1730G>A

1 paper

NM_001366207.1

p.V582F

c.1744G>T

1 paper

NM_001366207.1

p.N584insFs

c.1751_1752dupAT

2 papers

NM_001366207.1

p.E601*

c.1801G>T

1 paper

NM_004087.2

p.E634Q

c.1900G>C

1 paper

NM_001366207.1

p.D603_E604ins7

c.1807_1811ins21

1 paper

NM_004087.2

p.G639R

c.1915G>C

1 paper

NM_004087.2

p.G639R

c.1915G>A

1 paper

NM_001366207.1

p.R554Splc

c.1661+1842C>T

1 paper

NM_001366207.1

p.S550A

c.1648T>G

1 paper

NM_001366207.1

p.M532I

c.1596G>T