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

4 papers

NM_003900.5

p.P29R

c.86C>G

Surrounding Variants

1 paper

NM_003900.5

p.P29P

c.87C>G

4 papers

NM_003900.5

p.P29S

c.85C>T

1 paper

NM_003900.5

p.S28R

c.84C>A

1 paper

NM_003900.5

p.S28R

c.84C>G

1 paper

NM_003900.5

p.E30K

c.88G>A

1 paper

NM_003900.5

p.E30V

c.89A>T

1 paper

NM_003900.5

p.S28N

c.83G>A

1 paper

NM_003900.5

p.S28R

c.82A>C

1 paper

NM_003900.5

p.E30_P31insFs

c.90_91ins4

1 paper

NM_003900.5

p.P31T

c.91C>A

1 paper

NM_003900.5

p.P31S

c.91C>T

1 paper

NM_003900.5

p.C27S

c.80G>C