Varaico: Literature-Extracted Genetic Variants

Gene:BCO1
Variant:p.E398D

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.E398D
c.1194A>C
Surrounding Variants
1 paper
NM_017429.3
p.E398D
c.1194A>T
1 paper
NM_017429.3
p.C395W
c.1185C>G
1 paper
NM_017429.3
p.T381R
c.1142C>G
12 papers
NM_017429.3
p.A379V
c.1136C>T
1 paper
NM_017429.3
p.K367_N368Splc
c.1102-1G>A
2 papers
NM_017429.3
p.E405A
c.1214A>C
1 paper
NM_017429.3
p.Y418F
c.1253A>T
1 paper
NM_017429.3
p.Y420F
c.1259A>T
1 paper
NM_017429.3
p.D439Y
c.1315G>T
1 paper
NM_017429.3
p.E450A
c.1349A>C
1 paper
NM_017429.3
p.E457A
c.1370A>C
1 paper
NM_017429.3
p.L459delFs
c.1375_1376delCT
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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."