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.A39delins

c.115_116delinsTA

Surrounding Variants

1 paper

NM_003900.5

p.A39S

c.115G>T

1 paper

NM_003900.5

p.A39E

c.116C>A

1 paper

NM_003900.5

p.A39_G40insFs

c.117_118insG

2 papers

NM_003900.5

p.A38E

c.113C>A

1 paper

NM_003900.5

p.A39A

c.117G>A

1 paper

NM_003900.5

p.G40S

c.118G>A

1 paper

NM_003900.5

p.G40C

c.118G>T

1 paper

NM_003900.5

p.A37D

c.110C>A

1 paper

NM_003900.5

p.A37V

c.110C>T

1 paper

NM_003900.5

p.P41S

c.121C>T

1 paper

NM_003900.5

p.G42insFs

c.125dupG

2 papers

NM_003900.5

p.E36Q

c.106G>C