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

5 papers

NM_003900.5

p.A16V

c.47C>T

Surrounding Variants

1 paper

NM_003900.5

p.A16T

c.46G>A

1 paper

NM_003900.5

p.D15E

c.45C>A

1 paper

NM_003900.5

p.A17T

c.49G>A

1 paper

NM_003900.5

p.A17P

c.49G>C

1 paper

NM_003900.5

p.A17E

c.50C>A

1 paper

NM_003900.5

p.A17G

c.50C>G

2 papers

NM_003900.5

p.A17V

c.50C>T

2 papers

NM_003900.5

p.R18S

c.52C>A

1 paper

NM_003900.5

p.R18C

c.52C>T

1 paper

NM_003900.5

p.E14K

c.40G>A

1 paper

NM_003900.5

p.E14Q

c.40G>C

1 paper

NM_003900.5

p.K13K

c.39G>A