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

1–12 of 98 variants

6 papers

NM_002826.5

p.G200A

c.599G>C

4 papers

NM_002826.5

p.N591H

c.1771A>C

3 papers

NM_002826.5

p.P25T

c.73C>A

3 papers

NM_002826.5

p.N114S

c.341A>G

3 papers

NM_002826.5

p.A294S

c.880G>T

3 papers

NM_002826.5

p.R552W

c.1654C>T

3 papers

NM_002826.5

p.R605P

c.1814G>C

2 papers

NM_002826.5

p.L19del1

c.55_56delCTG

2 papers

NM_002826.5

p.P398L

c.1193C>T

2 papers

NM_002826.5

p.H444R

c.1331A>G

2 papers

NM_002826.5

p.C452S

c.1354T>A

2 papers

NM_002826.5

p.C452S

c.1355G>C