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.E352Q

c.1054G>C

Surrounding Variants

3 papers

NM_003900.5

p.E352A

c.1055A>C

13 papers

NM_003900.5

p.G351A

c.1052G>C

1 paper

NM_003900.5

p.L353F

c.1057C>T

1 paper

NM_003900.5

p.L353P

c.1058T>C

8 papers

NM_003900.5

p.T350A

c.1048A>G

1 paper

NM_003900.5

p.Q354*

c.1060C>T

1 paper

NM_003900.5

p.S349S

c.1047T>C

1 paper

NM_003900.5

p.S349C

c.1046C>G

1 paper

NM_003900.5

p.S349F

c.1046C>T

1 paper

NM_003900.5

p.Q354H

c.1062G>C

1 paper

NM_003900.5

p.Q354H

c.1062G>T

15 papers

NM_003900.5

p.S349T

c.1045T>A