Varaico: Literature-Extracted Genetic Variants

Gene:BCO1
Variant:p.R267S

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
9 papers
NM_017429.3
p.R267S
c.801A>T
Surrounding Variants
9 papers
NM_017429.3
p.R267S
c.801A>C
1 paper
NM_017429.3
p.R266Q
c.797G>A
1 paper
NM_017429.3
p.R266W
c.796C>T
1 paper
NM_017429.3
p.A271V
c.812C>T
1 paper
NM_017429.3
p.H277delFs
c.829delC
1 paper
NM_017429.3
p.L255S
c.764T>C
1 paper
NM_017429.3
p.Q251E
c.751C>G
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.E243D
c.729G>C
1 paper
NM_017429.3
p.E243D
c.729G>T
3 papers
NM_017429.3
p.E243K
c.727G>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."