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

11 papers

NM_003900.5

p.A315T

c.943G>A

Surrounding Variants

1 paper

NM_003900.5

p.A315_S318delFs

c.944_953del10

1 paper

NM_003900.5

p.A315V

c.944C>T

1 paper

NM_003900.5

p.K313R

c.938A>G

1 paper

NM_003900.5

p.E317K

c.949G>A

5 papers

NM_003900.5

p.R312R

c.936G>A

1 paper

NM_003900.5

p.R312_K313insFs

c.936_937insT

2 papers

NM_003900.5

p.R312Fs

c.936delinsTGAFs

6 papers

NM_003900.5

p.R312delins

c.934_936delinsTGA

7 papers

NM_003900.5

p.S318P

c.952T>C

1 paper

NM_003900.5

p.S318C

c.953C>G

1 paper

NM_003900.5

p.S318F

c.953C>T

6 papers

NM_003900.5

p.S318S

c.954C>T