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.M121L

c.361A>C

Surrounding Variants

2 papers

NM_003900.5

p.M121L

c.361A>T

1 paper

NM_003900.5

p.M121I

c.363G>A

1 paper

NM_003900.5

p.M121I

c.363G>C

1 paper

NM_003900.5

p.M121I

c.363G>T

2 papers

NM_003900.5

p.V122L

c.364G>C

1 paper

NM_003900.5

p.N120insFs

c.359dupA

1 paper

NM_003900.5

p.R119G

c.355C>G

7 papers

NM_003900.5

p.P118S

c.352C>T

1 paper

NM_003900.5

p.P124H

c.371C>A

13 papers

NM_003900.5

p.A117A

c.351G>A

1 paper

NM_003900.5

p.N125insFs

c.373dupA

12 papers

NM_003900.5

p.A117V

c.350C>T