Varaico: Literature-Extracted Genetic Variants

Gene:BCO1
Variant:p.E243D

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.E243D
c.729G>C
Surrounding Variants
1 paper
NM_017429.3
p.E243D
c.729G>T
3 papers
NM_017429.3
p.E243K
c.727G>A
1 paper
NM_017429.3
p.N244K
c.732C>A
1 paper
NM_017429.3
p.N244K
c.732C>G
1 paper
NM_017429.3
p.G240E
c.719G>A
1 paper
NM_017429.3
p.G240V
c.719G>T
1 paper
NM_017429.3
p.Y236F
c.707A>T
1 paper
NM_017429.3
p.Q251E
c.751C>G
1 paper
NM_017429.3
p.Y235S
c.704A>C
2 papers
NM_017429.3
p.Y235F
c.704A>T
1 paper
NM_017429.3
p.P233A
c.697C>G
1 paper
NM_017429.3
p.P233S
c.697C>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."