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.A380V

c.1139C>T

Surrounding Variants

2 papers

NM_003900.5

p.A380P

c.1138G>C

3 papers

NM_003900.5

p.A381T

c.1141G>A

31 papers

NM_003900.5

p.A381V

c.1142C>T

1 paper

NM_003900.5

p.E379K

c.1135G>A

1 paper

NM_003900.5

p.K378Q

c.1132A>C

23 papers

NM_003900.5

p.K378*

c.1132A>T

1 paper

NM_003900.5

p.L377L

c.1131G>A

9 papers

NM_003900.5

p.Y383*

c.1149C>A

9 papers

NM_003900.5

p.Y383*

c.1149C>G

2 papers

NM_003900.5

p.L377V

c.1129C>G

2 papers

NM_003900.5

p.P384S

c.1150C>T

1 paper

NM_003900.5

p.G376delFs

c.1128delG