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.L417Q

c.1250T>A

Surrounding Variants

2 papers

NM_003900.5

p.L417P

c.1250T>C

2 papers

NM_003900.5

p.L417V

c.1249C>G

1 paper

NM_003900.5

p.Q418L

c.1253A>T

1 paper

NM_003900.5

p.L416F

c.1246C>T

2 papers

NM_003900.5

p.T419A

c.1255A>G

1 paper

NM_003900.5

p.R415R

c.1245G>A

1 paper

NM_003900.5

p.R415M

c.1244G>T

1 paper

NM_003900.5

p.R415G

c.1243A>G

1 paper

NM_003900.5

p.R415W

c.1243A>T

1 paper

NM_003900.5

p.K420_A426del7

c.1258_1277del21

1 paper

NM_003900.5

p.K420Q

c.1258A>C

8 papers

NM_003900.5

p.K420R

c.1259A>G