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.P296L

c.887C>T

Surrounding Variants

1 paper

NM_003900.5

p.P296_G297insC

c.886_890ins3

2 papers

NM_003900.5

p.P296P

c.888G>T

5 papers

NM_003900.5

p.G297S

c.889G>A

1 paper

NM_003900.5

p.K295R

c.884A>G

2 papers

NM_003900.5

p.P293L

c.878C>T

1 paper

NM_003900.5

p.S294del1

c.880_881delAGC

1 paper

NM_003900.5

p.D292_P293insFs

c.876_877insT

6 papers

NM_003900.5

p.D292D

c.876C>T

5 papers

NM_003900.5

p.D292insFs

c.875_876insT

1 paper

NM_003900.5

p.E301*

c.901G>T

1 paper

NM_003900.5

p.C290S

c.869G>C

1 paper

NM_003900.5

p.G302G

c.906C>T