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.R10G

c.28A>G

Surrounding Variants

1 paper

NM_001366207.1

p.R10I

c.29G>T

1 paper

NM_001366207.1

p.R19H

c.56G>A

2 papers

NM_001366207.1

p.K21E

c.61A>G

1 paper

NM_001366207.1

p.L22Q

c.65T>A

1 paper

NM_001366207.1

p.D27A

c.80A>C

1 paper

NM_001366207.1

p.S33A

c.97T>G

1 paper

NM_001366207.1

p.S33F

c.98C>T

1 paper

NM_001366207.1

p.E35K

c.103G>A

1 paper

NM_001366207.1

p.R36W

c.106C>T

1 paper

NM_001366207.1

p.V37G

c.110T>G

1 paper

NM_001366207.1

p.Q47Fs

c.139delinsTTAFs

1 paper

NM_001366207.1

p.Q6E

c.16C>G