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.M585I

c.1755G>C

Surrounding Variants

1 paper

NM_002826.5

p.M585I

c.1755G>A

1 paper

NM_002826.5

p.M585I

c.1755G>T

4 papers

NM_002826.5

p.N591H

c.1771A>C

1 paper

NM_002826.5

p.E602D

c.1806G>C

1 paper

NM_002826.5

p.E602D

c.1806G>T

3 papers

NM_002826.5

p.R605P

c.1814G>C

1 paper

NM_002826.5

p.A559T

c.1675G>A

1 paper

NM_002826.5

p.D554Y

c.1660G>T

3 papers

NM_002826.5

p.R552W

c.1654C>T

1 paper

NM_002826.5

p.Q635Q

c.1905G>A

1 paper

NM_002826.5

p.G648R

c.1942G>A

1 paper

NM_002826.5

p.G648R

c.1942G>C