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.K140R

c.419A>G

Surrounding Variants

2 papers

NM_001366207.1

p.S138S

c.414A>G

1 paper

NM_001366207.1

p.S143L

c.428C>T

1 paper

NM_001366207.1

p.E133K

c.397G>A

1 paper

NM_001366207.1

p.I130K

c.389T>A

1 paper

NM_001366207.1

p.E128*

c.382G>T

1 paper

NM_001366207.1

p.T126T

c.378A>C

1 paper

NM_001366207.1

p.T126I

c.377C>T

3 papers

NM_001366207.1

p.I125T

c.374T>C

1 paper

NM_001366207.1

p.S158A

c.472T>G

1 paper

NM_001366207.1

p.K161_A162Splc

c.483+8A>T

1 paper

NM_001366207.1

p.E113D

c.339A>T

1 paper

NM_001366207.1

p.E113D

c.339A>C