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.A57A

c.171G>C

Surrounding Variants

1 paper

NM_003900.5

p.A57E

c.170C>A

1 paper

NM_003900.5

p.L58_R59insFs

c.174_175insTG

1 paper

NM_003900.5

p.R59insFs

c.176_177insTG

1 paper

NM_003900.5

p.R59insFs

c.176_177ins4

1 paper

NM_003900.5

p.P56L

c.167C>T

1 paper

NM_003900.5

p.P56S

c.166C>T

1 paper

NM_003900.5

p.F55F

c.165C>T

1 paper

NM_003900.5

p.P60fs

c.178_179fs

1 paper

NM_003900.5

p.P60S

c.178C>T

1 paper

NM_003900.5

p.F55Y

c.164T>A

1 paper

NM_003900.5

p.P60L

c.179C>T

1 paper

NM_003900.5

p.F55delFs

c.163delT