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

3 papers

NM_003900.5

p.S272A

c.814T>G

Surrounding Variants

1 paper

NM_003900.5

p.P273fs

c.817_818fs

1 paper

NM_003900.5

p.V271I

c.811G>A

1 paper

NM_003900.5

p.V271fs

c.811_812fs

1 paper

NM_003900.5

p.V271fs

c.811_812fs

1 paper

NM_003900.5

p.P273insFs

c.818_819insAG

7 papers

NM_003900.5

p.S275delFs

c.823_824delAG

1 paper

NM_003900.5

p.E274Q

c.820G>C

1 paper

NM_003900.5

p.T269S

c.806C>G

1 paper

NM_003900.5

p.T269I

c.806C>T

16 papers

NM_003900.5

p.E274D

c.822G>C

16 papers

NM_003900.5

p.E274D

c.822G>T

1 paper

NM_003900.5

p.S275fs

c.823_824fs