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.P60L

c.179C>T

Surrounding Variants

1 paper

NM_003900.5

p.P60fs

c.178_179fs

1 paper

NM_003900.5

p.P60S

c.178C>T

1 paper

NM_003900.5

p.G61C

c.181G>T

1 paper

NM_003900.5

p.G61G

c.183C>A

1 paper

NM_003900.5

p.R59insFs

c.176_177insTG

1 paper

NM_003900.5

p.R59insFs

c.176_177ins4

4 papers

NM_003900.5

p.G61G

c.183C>T

1 paper

NM_003900.5

p.G62R

c.184G>C

1 paper

NM_003900.5

p.G62C

c.184G>T

1 paper

NM_003900.5

p.G62delFs

c.186delC

1 paper

NM_003900.5

p.L58_R59insFs

c.174_175insTG

1 paper

NM_003900.5

p.A57A

c.171G>C