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.K264R

c.791A>G

Surrounding Variants

1 paper

NM_003900.5

p.K264Q

c.790A>C

1 paper

NM_003900.5

p.R265delFs

c.794delG

5 papers

NM_003900.5

p.K264delFs

c.790delA

2 papers

NM_003900.5

p.R265S

c.795A>C

2 papers

NM_003900.5

p.R265S

c.795A>T

1 paper

NM_003900.5

p.R265_S266delins

c.795_796delinsTT

2 papers

NM_003900.5

p.S266R

c.796A>C

2 papers

NM_003900.5

p.S266R

c.798C>A

2 papers

NM_003900.5

p.S266R

c.798C>G

7 papers

NM_003900.5

p.G262R

c.784G>A

6 papers

NM_003900.5

p.G262R

c.784G>C

1 paper

NM_003900.5

p.H261Q

c.783C>A