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.E174G

c.521A>G

Surrounding Variants

1 paper

NM_002826.5

p.N184K

c.552C>A

1 paper

NM_002826.5

p.N184K

c.552C>G

6 papers

NM_002826.5

p.G200A

c.599G>C

1 paper

NM_002826.5

p.A171D

c.512C>A

1 paper

NM_002826.5

p.P170H

c.509C>A

1 paper

NM_002826.5

p.V138Splc

c.413-4A>G

1 paper

NM_002826.5

p.D206N

c.616G>A

1 paper

NM_002826.5

p.S208F

c.623C>T

1 paper

NM_002826.5

p.K211K

c.633A>G

1 paper

NM_002826.5

p.V226V

c.678G>C

1 paper

NM_002826.5

p.R227*

c.679A>T

1 paper

NM_002826.5

p.S132S

c.396G>A