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

1 paper

NM_003900.5

p.C145S

c.433T>A

Surrounding Variants

1 paper

NM_003900.5

p.C145S

c.434G>C

1 paper

NM_003900.5

p.P146insFs

c.437dupC

1 paper

NM_003900.5

p.V144D

c.431T>A

1 paper

NM_003900.5

p.P146S

c.436C>T

2 papers

NM_003900.5

p.V144I

c.430G>A

2 papers

NM_003900.5

p.V144L

c.430G>C

1 paper

NM_003900.5

p.S143R

c.429C>A

1 paper

NM_003900.5

p.S143R

c.429C>G

1 paper

NM_003900.5

p.P146L

c.437C>T

1 paper

NM_003900.5

p.S143R

c.427A>C

1 paper

NM_003900.5

p.S143C

c.427A>T

3 papers

NM_003900.5

p.P146_C154ins3

c.436_462dup27