Varaico: Literature-Extracted Genetic Variants

Gene:BCO1

BCO1

81 papers

RefSeq Summary

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in...

Pfam Domains

RPE65aa 5–519UCSCRetinal pigment epithelial membrane protein

Gene Aliases

HGNC Name

beta-carotene oxygenase 1

HGNC Previous Symbols

BCDO; BCDO1; BCMO1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
12 papers
NM_017429.3
p.A379V
c.1136C>T
9 papers
NM_017429.3
p.T170M
c.509C>T
9 papers
NM_017429.3
p.R267S
c.801A>C
9 papers
NM_017429.3
p.R267S
c.801A>T
6 papers
NM_017429.3
p.G472A
c.1415G>C
5 papers
NM_017429.3
p.V158I
c.472G>A
3 papers
NM_017429.3
p.E243K
c.727G>A
3 papers
NM_017429.3
p.G472A
c.1415G>C
3 papers
NM_017429.3
p.C541Y
c.1622G>A
2 papers
NM_017429.3
p.E140A
c.419A>C
2 papers
NM_017429.3
p.R228C
c.682C>T
2 papers
NM_017429.3
p.Y235F
c.704A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."