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

24 papers

NM_003900.5

p.P348L

c.1043C>T

Surrounding Variants

1 paper

NM_003900.5

p.P348Q

c.1043C>A

2 papers

NM_003900.5

p.P348P

c.1044G>A

15 papers

NM_003900.5

p.S349T

c.1045T>A

1 paper

NM_003900.5

p.S349P

c.1045T>C

10 papers

NM_003900.5

p.S349A

c.1045T>G

1 paper

NM_003900.5

p.D347A

c.1040A>C

1 paper

NM_003900.5

p.D347G

c.1040A>G

1 paper

NM_003900.5

p.S349C

c.1046C>G

1 paper

NM_003900.5

p.S349F

c.1046C>T

2 papers

NM_003900.5

p.D347N

c.1039G>A

1 paper

NM_003900.5

p.D347Y

c.1039G>T

1 paper

NM_003900.5

p.D347delFs

c.1040_1041delAC