Varaico: Literature-Extracted Genetic Variants

Gene:BCO2
Variant:p.Y284C

BCO2

64 papers

RefSeq Summary

This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gen...

Pfam Domains

RPE65aa 57–578UCSCRetinal pigment epithelial membrane protein

Gene Aliases

HGNC Name

beta-carotene oxygenase 2

HGNC Previous Symbol

BCDO2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_031938.7
p.Y284C
c.851A>G
Surrounding Variants
1 paper
NM_031938.7
p.S273F
c.818C>T
1 paper
NM_031938.7
p.E257V
c.770A>T
1 paper
NM_031938.7
p.Y249C
c.746A>G
1 paper
NM_031938.7
p.G246A
c.737G>C
1 paper
NM_031938.7
p.M290V
c.868A>G
1 paper
NM_031938.7
p.N305Y
c.913A>T
1 paper
NM_031938.7
p.L306L
c.918G>A
1 paper
NM_031938.7
p.R315W
c.943C>T
1 paper
NM_031938.7
p.K317Q
c.949A>C
1 paper
NM_031938.7
p.P352T
c.1054C>A
1 paper
NM_031938.7
p.G246S
c.736G>A
1 paper
NM_031938.7
p.F197S
c.590T>C
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