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

8 papers

NM_003900.5

p.R321H

c.962G>A

Surrounding Variants

15 papers

NM_003900.5

p.R321C

c.961C>T

1 paper

NM_003900.5

p.P322fs

c.964_965fs

1 paper

NM_001142298.2

p.P238insFs

c.712_713ins23

1 paper

NM_003900.5

p.P322delFs

c.965_966delCT

1 paper

NM_003900.5

p.G320G

c.960G>A

12 papers

NM_003900.5

p.E319K

c.955G>A

2 papers

NM_003900.5

p.E323E

c.969G>A

1 paper

NM_003900.5

p.E323_E324insFs

c.969_970insTT

6 papers

NM_003900.5

p.S318S

c.954C>T

1 paper

NM_003900.5

p.S318C

c.953C>G

1 paper

NM_003900.5

p.S318F

c.953C>T

7 papers

NM_003900.5

p.S318P

c.952T>C