Varaico: Literature-Extracted Genetic Variants

QSOX2

41 papers

RefSeq Summary

QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Witt...

Pfam Domains

Thioredoxinaa 63–172UCSCThioredoxin

QSOX_Trx1aa 185–292UCSCQSOX Trx-like domain

FAD_SOXaa 318–421UCSCFlavin adenine dinucleotide (FAD)-dependent sulfhydryl oxidase

Evr1_Alraa 430–531UCSCErv1 / Alr family

Gene Aliases

HGNC Name

quiescin sulfhydryl oxidase 2

HGNC Previous Symbol

QSCN6L1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

2 papers

NM_181701.4

p.T352M

c.1055C>T

2 papers

NM_181701.4

p.R524W

c.1570C>T

2 papers

NM_181701.4

p.V554M

c.1660G>A

1 paper

NM_181701.4

p.V8G

c.23T>G

1 paper

NM_181701.4

p.V8V

c.24G>A

1 paper

NM_181701.4

p.A19E

c.56C>A

1 paper

NM_181701.4

p.R24S

c.70C>A

1 paper

NM_181701.4

p.L40L

c.120A>T

1 paper

NM_181701.4

p.V45G

c.134T>G

1 paper

NM_181701.4

p.E60K

c.178G>A

1 paper

NM_181701.4

p.V71E

c.212T>A

1 paper

NM_181701.4

p.S88L

c.263C>T