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

7 papers

NM_003900.5

p.E116D

c.348G>C

Surrounding Variants

1 paper

NM_003900.5

p.E116G

c.347A>G

1 paper

NM_003900.5

p.E116V

c.347A>T

1 paper

NM_003900.5

p.A117T

c.349G>A

1 paper

NM_003900.5

p.A117_P118insG

c.349_353ins3

12 papers

NM_003900.5

p.A117V

c.350C>T

1 paper

NM_003900.5

p.E116K

c.346G>A

13 papers

NM_003900.5

p.A117A

c.351G>A

1 paper

NM_003900.5

p.Q115R

c.344A>G

3 papers

NM_003900.5

p.Q115L

c.344A>T

7 papers

NM_003900.5

p.P118S

c.352C>T

1 paper

NM_003900.5

p.Q115K

c.343C>A

1 paper

NM_003900.5

p.R119G

c.355C>G