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_001366207.1

p.R554Splc

c.1661+1842C>T

Surrounding Variants

1 paper

NM_001366207.1

p.S550A

c.1648T>G

1 paper

NM_001366207.1

p.M532I

c.1596G>T

1 paper

NM_001366207.1

p.M532I

c.1596G>C

1 paper

NM_001366207.1

p.M532I

c.1596G>A

1 paper

NM_001366207.1

p.E529D

c.1587G>T

1 paper

NM_001366207.1

p.E529D

c.1587G>C

2 papers

NM_001366216.1

p.H507Q

c.1521T>A

3 papers

NM_001366207.1

p.R519H

c.1556G>A

1 paper

NM_004087.2

p.N606K

c.1818C>G

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