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.D69N

c.205G>A

Surrounding Variants

55 papers

NM_003900.5

p.D69A

c.206A>C

1 paper

NM_003900.5

p.R68R

c.204C>G

3 papers

NM_003900.5

p.R68P

c.203G>C

1 paper

NM_003900.5

p.R68insFs

c.203_204insC

1 paper

NM_003900.5

p.D69Splc

c.205+6C>T

1 paper

NM_003900.5

p.A65T

c.193G>A

2 papers

NM_003900.5

p.D69Splc

c.205+12G>T

1 paper

NM_003900.5

p.Q64L

c.191A>T

1 paper

NM_003900.5

p.F63F

c.189C>T

1 paper

NM_003900.5

p.G62delFs

c.186delC

2 papers

NM_003900.5

p.D69Splc

c.205+21C>T

1 paper

NM_003900.5

p.G62R

c.184G>C