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

2 papers

NM_002826.5

p.C452S

c.1355G>C

Surrounding Variants

2 papers

NM_002826.5

p.C452S

c.1354T>A

1 paper

NM_002826.5

p.C449S

c.1346G>C

1 paper

NM_002826.5

p.H455Q

c.1365C>A

1 paper

NM_002826.5

p.H455Q

c.1365C>G

1 paper

NM_002826.5

p.C449S

c.1345T>A

2 papers

NM_002826.5

p.H444R

c.1331A>G

1 paper

NM_002826.5

p.S493fs

c.1477_1478fs

1 paper

NM_002826.5

p.S493_E494insFs

c.1479_1480insC

2 papers

NM_002826.5

p.C509S

c.1525T>A

2 papers

NM_002826.5

p.C509S

c.1526G>C

2 papers

NM_002826.5

p.C512S

c.1534T>A

2 papers

NM_002826.5

p.C512S

c.1535G>C