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.R161R

c.483G>A

Surrounding Variants

1 paper

NM_003900.5

p.G162R

c.484G>A

1 paper

NM_003900.5

p.G162R

c.484G>C

1 paper

NM_003900.5

p.R161L

c.482G>T

1 paper

NM_003900.5

p.G162W

c.484G>T

4 papers

NM_003900.5

p.R161W

c.481C>T

1 paper

NM_003900.5

p.R161fs

c.481_482fs

1 paper

NM_003900.5

p.G162E

c.485G>A

1 paper

NM_003900.5

p.H163delFs

c.488delA

1 paper

NM_003900.5

p.H163R

c.488A>G

1 paper

NM_003900.5

p.H163L

c.488A>T

1 paper

NM_003900.5

p.T164A

c.490A>G

1 paper

NM_003900.5

p.R161_H163del3

c.481_488del9