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

3 papers

NM_002826.5

p.N114S

c.341A>G

Surrounding Variants

1 paper

NM_002826.5

p.F113L

c.339C>A

1 paper

NM_002826.5

p.F113L

c.339C>G

1 paper

NM_002826.5

p.F113L

c.337T>C

1 paper

NM_002826.5

p.P116fs

c.346_347fs

1 paper

NM_002826.5

p.D112A

c.335A>C

1 paper

NM_002826.5

p.R111T

c.332G>C

1 paper

NM_002826.5

p.P119T

c.355C>A

1 paper

NM_002826.5

p.P119S

c.355C>T

1 paper

NM_002826.5

p.L99P

c.296T>C

1 paper

NM_002826.5

p.R122_F123Splc

c.367-1865A>T

1 paper

NM_002826.5

p.R122_F123Splc

c.367-1G>C

1 paper

NM_002826.5

p.K129M

c.386A>T