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.K13K

c.39G>A

Surrounding Variants

1 paper

NM_003900.5

p.K13N

c.39G>C

3 papers

NM_003900.5

p.K13R

c.38A>G

1 paper

NM_003900.5

p.E14K

c.40G>A

1 paper

NM_003900.5

p.E14Q

c.40G>C

1 paper

NM_003900.5

p.K13E

c.37A>G

7 papers

NM_003900.5

p.G12D

c.35G>A

1 paper

NM_003900.5

p.G12A

c.35G>C

4 papers

NM_003900.5

p.G12V

c.35G>T

4 papers

NM_003900.5

p.G12R

c.34G>C

3 papers

NM_003900.5

p.G12C

c.34G>T

1 paper

NM_003900.5

p.D15E

c.45C>A

1 paper

NM_003900.5

p.A16T

c.46G>A