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

Selected Variant

2 papers

NM_181701.4

p.R524W

c.1570C>T

Surrounding Variants

1 paper

NM_181701.4

p.W530R

c.1588T>C

1 paper

NM_181701.4

p.W530R

c.1588T>A

1 paper

NM_181701.4

p.E541G

c.1622A>G

1 paper

NM_181701.4

p.W549*

c.1646G>A

1 paper

NM_181701.4

p.E551K

c.1651G>A

2 papers

NM_181701.4

p.V554M

c.1660G>A

1 paper

NM_181701.4

p.L558S

c.1673T>C

1 paper

NM_181701.4

p.D574Y

c.1720G>T

1 paper

NM_181701.4

p.G576A

c.1727G>C

1 paper

NM_181701.4

p.E588V

c.1763A>T

1 paper

NM_181701.4

p.L594L

c.1782C>T

1 paper

NM_181701.4

p.R610C

c.1828C>T