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.L4L

c.12C>G

Surrounding Variants

1 paper

NM_003900.5

p.L4H

c.11T>A

1 paper

NM_003900.5

p.T5N

c.14C>A

1 paper

NM_003900.5

p.L4ins2

c.10_11ins6

1 paper

NM_003900.5

p.T5I

c.14C>T

1 paper

NM_003900.5

p.V6E

c.17T>A

1 paper

NM_003900.5

p.V6V

c.18G>A

1 paper

NM_003900.5

p.K7insFs

c.19dupA

1 paper

NM_003900.5

p.A2_S3insFs

c.6_7insT

1 paper

NM_003900.5

p.K7E

c.19A>G

2 papers

NM_003900.5

p.A2insFs

c.5_6insT

1 paper

NM_003900.5

p.A2G

c.5C>G

7 papers

NM_003900.5

p.A2V

c.5C>T