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

1–12 of 876 variants

225 papers

NM_003900.5

p.P392L

c.1175C>T

63 papers

NM_003900.5

p.G425R

c.1273G>A

63 papers

NM_003900.5

p.G425R

c.1273G>C

55 papers

NM_003900.5

p.D69A

c.206A>C

55 papers

NM_003900.5

p.P387L

c.1160C>T

54 papers

NM_003900.5

p.M404V

c.1210A>G

53 papers

NM_003900.5

p.G411S

c.1231G>A

45 papers

NM_003900.5

p.E396*

c.1186G>T

33 papers

NM_003900.5

p.K238E

c.712A>G

31 papers

NM_003900.5

p.A381V

c.1142C>T

29 papers

NM_003900.5

p.L341V

c.1021C>G

26 papers

NM_003900.5

p.A33V

c.98C>T