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.P437S

c.1309C>T

Surrounding Variants

1 paper

NM_003900.5

p.P437A

c.1309C>G

1 paper

NM_003900.5

p.P437H

c.1310C>A

1 paper

NM_003900.5

p.P437L

c.1310C>T

2 papers

NM_003900.5

p.H436insFs

c.1307_1308insT

1 paper

NM_003900.5

p.P438S

c.1312C>T

11 papers

NM_003900.5

p.P438L

c.1313C>T

3 papers

NM_003900.5

p.K435R

c.1304A>G

1 paper

NM_003900.5

p.K435Q

c.1303A>C

1 paper

NM_003900.5

p.S434S

c.1302A>C

16 papers

NM_003900.5

p.P439L

c.1316C>T

2 papers

NM_003900.5

p.Q432H

c.1296G>T

1 paper

NM_003900.5

p.*441L

c.1322G>T