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.S226fs

c.676_677fs

Surrounding Variants

1 paper

NM_003900.5

p.S226T

c.676T>A

7 papers

NM_003900.5

p.S226P

c.676T>C

1 paper

NM_003900.5

p.S226A

c.676T>G

1 paper

NM_003900.5

p.P228_S229del2

c.682_686del6

1 paper

NM_003900.5

p.P228A

c.682C>G

1 paper

NM_003900.5

p.P228S

c.682C>T

12 papers

NM_003900.5

p.P228L

c.683C>T

1 paper

NM_001142298.2

p.S145S

c.435G>T

1 paper

NM_003900.5

p.D231N

c.691G>A

4 papers

NM_003900.5

p.K238insFs

c.712_713ins23

6 papers

NM_003900.5

p.P232T

c.694C>A

3 papers

NM_003900.5

p.P232L

c.695C>T