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.E309A

c.926A>C

Surrounding Variants

1 paper

NM_003900.5

p.E309G

c.926A>G

1 paper

NM_003900.5

p.E309K

c.925G>A

1 paper

NM_003900.5

p.E309Q

c.925G>C

1 paper

NM_003900.5

p.E309*

c.925G>T

2 papers

NM_003900.5

p.A308A

c.924G>A

8 papers

NM_003900.5

p.M311_R312del2

c.931_935del6

4 papers

NM_003900.5

p.A308V

c.923C>T

1 paper

NM_003900.5

p.M311V

c.931A>G

1 paper

NM_003900.5

p.L307delFs

c.921delG

6 papers

NM_003900.5

p.R312delins

c.934_936delinsTGA

5 papers

NM_003900.5

p.R312R

c.936G>A

1 paper

NM_003900.5

p.R312_K313insFs

c.936_937insT