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.S361P

c.1081T>C

Surrounding Variants

2 papers

NM_003900.5

p.S361S

c.1083C>T

7 papers

NM_003900.5

p.E362K

c.1084G>A

1 paper

NM_003900.5

p.E362G

c.1085A>G

1 paper

NM_003900.5

p.M358I

c.1074G>A

1 paper

NM_003900.5

p.M358I

c.1074G>C

1 paper

NM_003900.5

p.M358I

c.1074G>T

1 paper

NM_003900.5

p.P359del1

c.1075_1077delCCA

1 paper

NM_003900.5

p.M358V

c.1072A>G

13 papers

NM_003900.5

p.P364S

c.1090C>T

1 paper

NM_003900.5

p.P364L

c.1091C>T

1 paper

NM_003900.5

p.Q357P

c.1070A>C

1 paper

NM_003900.5

p.Q357R

c.1070A>G