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

1 paper

NM_003900.5

p.Q400P

c.1199A>C

Surrounding Variants

5 papers

NM_003900.5

p.Q400*

c.1198C>T

6 papers

NM_003900.5

p.M401V

c.1201A>G

1 paper

NM_003900.5

p.S399S

c.1197C>A

24 papers

NM_003900.5

p.S399P

c.1195T>C

1 paper

NM_003900.5

p.L398P

c.1193T>C

3 papers

NM_003900.5

p.L398V

c.1192C>G

2 papers

NM_003900.5

p.S403P

c.1207T>C

10 papers

NM_003900.5

p.S403A

c.1207T>G

5 papers

NM_003900.5

p.S397Y

c.1190C>A

1 paper

NM_003900.5

p.S403F

c.1208C>T

1 paper

NM_003900.5

p.S403S

c.1209C>A

3 papers

NM_003900.5

p.S403S

c.1209C>T