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.D149N

c.445G>A

Surrounding Variants

1 paper

NM_003900.5

p.D149_L150delFs

c.447_448delCT

1 paper

NM_003900.5

p.Y148*

c.444C>A

1 paper

NM_003900.5

p.Y148F

c.443A>T

2 papers

NM_003900.5

p.D149E

c.447C>A

1 paper

NM_003900.5

p.Y148_D149delFs

c.442_446del5

1 paper

NM_003900.5

p.C151S

c.451T>A

1 paper

NM_003900.5

p.C151S

c.452G>C

1 paper

NM_003900.5

p.P146L

c.437C>T

1 paper

NM_003900.5

p.P146S

c.436C>T

2 papers

NM_003900.5

p.S152insFs

c.455_456insC

1 paper

NM_003900.5

p.S152delFs

c.456delC

1 paper

NM_003900.5

p.C145S

c.434G>C