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

29 papers

NM_003900.5

p.L341V

c.1021C>G

Surrounding Variants

1 paper

NM_003900.5

p.H340_L341delFs

c.1020_1023del4

1 paper

NM_003900.5

p.T339I

c.1016C>T

1 paper

NM_003900.5

p.K344delFs

c.1030delA

1 paper

NM_003900.5

p.S343S

c.1029A>G

12 papers

NM_003900.5

p.K344E

c.1030A>G

11 papers

NM_003900.5

p.D337E

c.1011C>A

11 papers

NM_003900.5

p.D337E

c.1011C>G

3 papers

NM_003900.5

p.D337A

c.1010A>C

3 papers

NM_003900.5

p.K344K

c.1032A>G

1 paper

NM_003900.5

p.E345V

c.1034A>T

1 paper

NM_003900.5

p.D336A

c.1007A>C

2 papers

NM_003900.5

p.D336N

c.1006G>A