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.R46Q

c.137G>A

Surrounding Variants

1 paper

NM_003900.5

p.L47V

c.139C>G

1 paper

NM_003900.5

p.L48M

c.142C>A

1 paper

NM_003900.5

p.L48L

c.142C>T

1 paper

NM_003900.5

p.C44S

c.131G>C

2 papers

NM_003900.5

p.L48P

c.143T>C

1 paper

NM_003900.5

p.C44S

c.130T>A

1 paper

NM_003900.5

p.R50R

c.150G>C

1 paper

NM_003900.5

p.G42insFs

c.125dupG

1 paper

NM_003900.5

p.P41S

c.121C>T

1 paper

NM_003900.5

p.V51V

c.153G>C

1 paper

NM_003900.5

p.A52T

c.154G>A

1 paper

NM_003900.5

p.A52S

c.154G>T