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

2 papers

NM_003900.5

p.N239D

c.715A>G

Surrounding Variants

5 papers

NM_003900.5

p.N239K

c.717C>A

5 papers

NM_003900.5

p.N239K

c.717C>G

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

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

33 papers

NM_003900.5

p.K238E

c.712A>G

1 paper

NM_003900.5

p.V240I

c.718G>A

1 paper

NM_003900.5

p.V240delFs

c.720delT

1 paper

NM_003900.5

p.L237L

c.711G>C