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.S370P

c.1108T>C

Surrounding Variants

1 paper

NM_003900.5

p.L367L

c.1101G>A

6 papers

NM_003900.5

p.E372D

c.1116G>C

6 papers

NM_003900.5

p.E372D

c.1116G>T

4 papers

NM_003900.5

p.S366A

c.1096T>G

1 paper

NM_003900.5

p.S365R

c.1095C>A

1 paper

NM_003900.5

p.S365R

c.1095C>G

1 paper

NM_003900.5

p.S365N

c.1094G>A

1 paper

NM_003900.5

p.S365I

c.1094G>T

1 paper

NM_003900.5

p.S365R

c.1093A>C

1 paper

NM_003900.5

p.T375P

c.1123A>C

1 paper

NM_003900.5

p.G376delFs

c.1128delG

1 paper

NM_003900.5

p.P364L

c.1091C>T