Varaico: Literature-Extracted Genetic Variants

Gene:BCO1
Variant:p.S139P

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
Selected Variant
1 paper
NM_017429.3
p.S139P
c.415T>C
Surrounding Variants
2 papers
NM_017429.3
p.E140A
c.419A>C
1 paper
NM_017429.3
p.A137V
c.410C>T
1 paper
NM_017429.3
p.L152V
c.454C>G
1 paper
NM_017429.3
p.E153K
c.457G>A
1 paper
NM_017429.3
p.L155V
c.463C>G
1 paper
NM_017429.3
p.F110L
c.330C>A
1 paper
NM_017429.3
p.F110L
c.330C>G
1 paper
NM_017429.3
p.F110L
c.328T>C
1 paper
NM_017429.3
p.K108Splc
c.324-1G>C
5 papers
NM_017429.3
p.V158I
c.472G>A
1 paper
NM_017429.3
p.R161C
c.481C>T
1 paper
NM_017429.3
p.V164V
c.492G>A
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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."