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

3 papers

NM_003900.5

p.H261H

c.783C>T

Surrounding Variants

1 paper

NM_003900.5

p.H261Q

c.783C>A

1 paper

NM_003900.5

p.H261Q

c.783C>G

1 paper

NM_003900.5

p.G262delFs

c.785delG

7 papers

NM_003900.5

p.G262R

c.784G>A

6 papers

NM_003900.5

p.G262R

c.784G>C

1 paper

NM_003900.5

p.E260D

c.780G>C

1 paper

NM_003900.5

p.E260D

c.780G>T

5 papers

NM_003900.5

p.K264delFs

c.790delA

1 paper

NM_003900.5

p.K264Q

c.790A>C

1 paper

NM_003900.5

p.V259delFs

c.777delG

1 paper

NM_003900.5

p.K264R

c.791A>G

1 paper

NM_003900.5

p.V259M

c.775G>A