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

45 papers

NM_003900.5

p.E396*

c.1186G>T

Surrounding Variants

1 paper

NM_003900.5

p.E396fs

c.1186_1187fs

2 papers

NM_003900.5

p.E396insFs

c.1186_1187insT

3 papers

NM_003900.5

p.I395insFs

c.1185dupT

7 papers

NM_003900.5

p.S397A

c.1189T>G

2 papers

NM_003900.5

p.L398delFs

c.1192delC

5 papers

NM_003900.5

p.S397Y

c.1190C>A

3 papers

NM_003900.5

p.L398V

c.1192C>G

1 paper

NM_003900.5

p.L398P

c.1193T>C

2 papers

NM_003900.5

p.R393Q

c.1178G>A

3 papers

NM_003900.5

p.R393W

c.1177C>T

24 papers

NM_003900.5

p.S399P

c.1195T>C

1 paper

NM_003900.5

p.P392P

c.1176G>A