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.N132D

c.394A>G

Surrounding Variants

1 paper

NM_003900.5

p.N132Y

c.394A>T

1 paper

NM_003900.5

p.C131F

c.392G>T

1 paper

NM_003900.5

p.G133R

c.397G>A

1 paper

NM_003900.5

p.G133R

c.397G>C

1 paper

NM_003900.5

p.P134S

c.400C>T

2 papers

NM_003900.5

p.D129E

c.387T>A

2 papers

NM_003900.5

p.D129E

c.387T>G

4 papers

NM_003900.5

p.D129A

c.386A>C

8 papers

NM_003900.5

p.D129N

c.385G>A

1 paper

NM_003900.5

p.V135L

c.403G>C

1 paper

NM_003900.5

p.V135L

c.403G>T

1 paper

NM_003900.5

p.V135_G137delFs

c.405_409del5