Varaico: Literature-Extracted Genetic Variants

QSOX1

83 papers

RefSeq Summary

This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cyc...

Pfam Domains

Thioredoxinaa 42–148UCSCThioredoxin

QSOX_Trx1aa 162–269UCSCQSOX Trx-like domain

FAD_SOXaa 295–396UCSCFlavin adenine dinucleotide (FAD)-dependent sulfhydryl oxidase

Evr1_Alraa 405–504UCSCErv1 / Alr family

Gene Aliases

HGNC Name

quiescin sulfhydryl oxidase 1

HGNC Previous Symbol

QSCN6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002826.5

p.V226V

c.678G>C

Surrounding Variants

1 paper

NM_002826.5

p.R227*

c.679A>T

1 paper

NM_002826.5

p.K211K

c.633A>G

1 paper

NM_002826.5

p.R242W

c.724C>T

1 paper

NM_002826.5

p.R242Q

c.725G>A

1 paper

NM_002826.5

p.S208F

c.623C>T

1 paper

NM_002826.5

p.D206N

c.616G>A

1 paper

NM_002826.5

p.R248Q

c.743G>A

1 paper

NM_002826.5

p.P250H

c.749C>A

1 paper

NM_002826.5

p.M253T

c.758T>C

1 paper

NM_002826.5

p.R256M

c.767G>T

1 paper

NM_002826.5

p.T281T

c.843C>G

1 paper

NM_002826.5

p.L293*

c.878T>A