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_001366207.1

p.S681N

c.2042G>A

Surrounding Variants

1 paper

NM_004087.2

p.N729I

c.2186A>T

1 paper

NM_001366207.1

p.D718V

c.2153A>T

1 paper

NM_001366207.1

p.R737*

c.2209A>T

1 paper

NM_001366207.1

p.R740*

c.2218C>T

1 paper

NM_001366207.1

p.K760E

c.2278A>G

1 paper

NM_001366207.1

p.R786Q

c.2357G>A

1 paper

NM_001366207.1

p.D666E

c.1998T>G

1 paper

NM_001366207.1

p.D666E

c.1998T>A

1 paper

NM_001366207.1

p.Q662P

c.1985A>C

1 paper

NM_001366207.1

p.Y813H

c.2437T>C

1 paper

NM_004087.2

p.K855I

c.2564A>T

1 paper

NM_001366207.1

p.M824_E825del2

c.2470_2474del6