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.T269S

c.805A>T

Surrounding Variants

3 papers

NM_003900.5

p.T269A

c.805A>G

2 papers

NM_003900.5

p.P270delFs

c.810delC

1 paper

NM_003900.5

p.T269S

c.806C>G

1 paper

NM_003900.5

p.T269I

c.806C>T

3 papers

NM_003900.5

p.L268V

c.802C>G

3 papers

NM_003900.5

p.R267H

c.800G>A

1 paper

NM_003900.5

p.R267C

c.799C>T

1 paper

NM_003900.5

p.V271I

c.811G>A

1 paper

NM_003900.5

p.V271fs

c.811_812fs

1 paper

NM_003900.5

p.V271fs

c.811_812fs

2 papers

NM_003900.5

p.S266R

c.798C>A

2 papers

NM_003900.5

p.S266R

c.798C>G