Varaico: Literature-Extracted Genetic Variants

SQSTM1

1,685 papers

RefSeq Summary

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protei...

Pfam Domains

PB1aa 21–102UCSCPB1 domain

ZZaa 122–165UCSCZinc finger, ZZ type

UBA_5aa 379–440UCSCUBA domain

Gene Aliases

HGNC Name

sequestosome 1

HGNC Previous Symbols

PDB3; OSIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003900.5

p.E327V

c.980A>T

Surrounding Variants

2 papers

NM_003900.5

p.S328L

c.983C>T

1 paper

NM_003900.5

p.M326V

c.976A>G

4 papers

NM_003900.5

p.S328S

c.984G>A

3 papers

NM_003900.5

p.D329H

c.985G>C

1 paper

NM_003900.5

p.D329Y

c.985G>T

2 papers

NM_003900.5

p.D329A

c.986A>C

12 papers

NM_003900.5

p.D329G

c.986A>G

1 paper

NM_003900.5

p.Q325insFs

c.973dupC

1 paper

NM_003900.5

p.N330I

c.989A>T

1 paper

NM_003900.5

p.E324K

c.970G>A

2 papers

NM_003900.5

p.E324Q

c.970G>C

1 paper

NM_003900.5

p.E324fs

c.970_971fs