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

1 paper

NM_181701.4

p.K294R

c.881A>G

Surrounding Variants

1 paper

NM_181701.4

p.A280V

c.839C>T

1 paper

NM_181701.4

p.I311M

c.933C>G

1 paper

NM_181701.4

p.I311I

c.933C>A

1 paper

NM_181701.4

p.W314*

c.941G>A

1 paper

NM_181701.4

p.K319K

c.957G>A

1 paper

NM_181701.4

p.S320A

c.958T>G

1 paper

NM_181701.4

p.V325fs

c.973_974fs

1 paper

NM_181701.4

p.V325delFs

c.973delC

1 paper

NM_181701.4

p.L334F

c.1000C>T

1 paper

NM_181701.4

p.G347V

c.1040G>T

1 paper

NM_181701.4

p.G347A

c.1040G>C

1 paper

NM_181701.4

p.G347E

c.1040G>A