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

3 papers

NM_003900.5

p.V234V

c.702G>A

Surrounding Variants

1 paper

NM_003900.5

p.L237V

c.709C>G

3 papers

NM_003900.5

p.P232L

c.695C>T

6 papers

NM_003900.5

p.P232T

c.694C>A

10 papers

NM_003900.5

p.K238del1

c.712_713delAAG

1 paper

NM_003900.5

p.L237L

c.711G>C

1 paper

NM_003900.5

p.K238_N239insFs

c.714_715dupGA

1 paper

NM_003900.5

p.K238insFs

c.713_714ins8

1 paper

NM_003900.5

p.K238insFs

c.713_714ins22

4 papers

NM_003900.5

p.K238insFs

c.712_713ins23

2 papers

NM_003900.5

p.K238insFs

c.712_713ins5

1 paper

NM_003900.5

p.K238ins2

c.712_713ins6

1 paper

NM_003900.5

p.K238ins3

c.712_713ins9