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

26 papers

NM_003900.5

p.A33V

c.98C>T

Surrounding Variants

1 paper

NM_003900.5

p.A33G

c.98C>G

1 paper

NM_003900.5

p.E34K

c.100G>A

1 paper

NM_003900.5

p.E34Q

c.100G>C

1 paper

NM_003900.5

p.E32G

c.95A>G

1 paper

NM_003900.5

p.E34V

c.101A>T

1 paper

NM_003900.5

p.E34_L47delFs

c.102_139del38

1 paper

NM_003900.5

p.E32K

c.94G>A

1 paper

NM_003900.5

p.E32Q

c.94G>C

1 paper

NM_003900.5

p.A35T

c.103G>A

1 paper

NM_003900.5

p.P31T

c.91C>A

1 paper

NM_003900.5

p.A35A

c.105C>A

1 paper

NM_003900.5

p.P31S

c.91C>T