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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002826.5

p.G7R

c.19G>C

1 paper

NM_002826.5

p.G9E

c.26G>A

1 paper

NM_002826.5

p.P10S

c.28C>T

1 paper

NM_002826.5

p.P10R

c.29C>G

1 paper

NM_002826.5

p.S13ins1

c.38_39insGCT

2 papers

NM_002826.5

p.L19del1

c.55_56delCTG

3 papers

NM_002826.5

p.P25T

c.73C>A

1 paper

NM_002826.5

p.G26A

c.77G>C

1 paper

NM_002826.5

p.A34V

c.101C>T

1 paper

NM_002826.5

p.P38_S39insGCT

c.112_116ins9

1 paper

NM_002826.5

p.L55_S57del3

c.163_170del9

1 paper

NM_002826.5

p.A62P

c.184G>C