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.K141Q

c.421A>C

Surrounding Variants

2 papers

NM_003900.5

p.K141E

c.421A>G

1 paper

NM_003900.5

p.K141T

c.422A>C

1 paper

NM_003900.5

p.K141M

c.422A>T

2 papers

NM_003900.5

p.Y140*

c.420C>A

2 papers

NM_003900.5

p.Y140*

c.420C>G

1 paper

NM_003900.5

p.Y140C

c.419A>G

1 paper

NM_003900.5

p.Y140_C142delFs

c.420_426del7

1 paper

NM_003900.5

p.K141N

c.423G>C

1 paper

NM_003900.5

p.K141N

c.423G>T

3 papers

NM_003900.5

p.P146_C154ins3

c.436_462dup27

2 papers

NM_003900.5

p.R139H

c.416G>A

1 paper

NM_003900.5

p.S143R

c.427A>C