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.N421N

c.1263C>T

Surrounding Variants

1 paper

NM_003900.5

p.Y422*

c.1266T>A

1 paper

NM_003900.5

p.Y422*

c.1266T>G

8 papers

NM_003900.5

p.K420R

c.1259A>G

1 paper

NM_003900.5

p.D423insFs

c.1267_1268insT

1 paper

NM_003900.5

p.K420Q

c.1258A>C

1 paper

NM_003900.5

p.K420_A426del7

c.1258_1277del21

2 papers

NM_003900.5

p.T419A

c.1255A>G

7 papers

NM_003900.5

p.I424S

c.1271T>G

1 paper

NM_003900.5

p.Q418L

c.1253A>T

63 papers

NM_003900.5

p.G425R

c.1273G>A

63 papers

NM_003900.5

p.G425R

c.1273G>C

8 papers

NM_003900.5

p.G425E

c.1274G>A