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

4 papers

NM_003900.5

p.D408_E409insFs

c.1224_1225insT

Surrounding Variants

1 paper

NM_003900.5

p.D408ins1

c.1222_1223insTCT

3 papers

NM_003900.5

p.E409K

c.1225G>A

3 papers

NM_003900.5

p.E409insFs

c.1225_1226insT

1 paper

NM_003900.5

p.E409A

c.1226A>C

1 paper

NM_003900.5

p.S407F

c.1220C>T

4 papers

NM_003900.5

p.S407A

c.1219T>G

5 papers

NM_003900.5

p.F406V

c.1216T>G

21 papers

NM_003900.5

p.G405G

c.1215C>T

53 papers

NM_003900.5

p.G411S

c.1231G>A

9 papers

NM_003900.5

p.G405delFs

c.1215delC

1 paper

NM_003900.5

p.G411G

c.1233C>T

1 paper

NM_003900.5

p.G405R

c.1213G>C