Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.L195Q

CYP27B1

294 papers

RefSeq Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cho...

Pfam Domains

p450aa 40–505UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 27 subfamily B member 1

HGNC Previous Symbols

VDD1; PDDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000785.4
p.L195Q
c.584T>A
Surrounding Variants
1 paper
NM_000785.4
p.G194E
c.581G>A
2 papers
NM_000785.4
p.G194*
c.580G>T
3 papers
NM_000785.4
p.G194R
c.580G>C
3 papers
NM_000785.4
p.G194R
c.580G>A
12 papers
NM_000785.4
p.G197Splc
c.589+1G>A
1 paper
NM_000785.4
p.G197Splc
c.589+3G>A
9 papers
NM_000785.4
p.K192E
c.574A>G
1 paper
NM_000785.4
p.Y191H
c.571T>C
18 papers
NM_000785.4
p.E189G
c.566A>G
1 paper
NM_000785.4
p.E189*
c.565G>T
9 papers
NM_000785.4
p.E189K
c.565G>A
1 paper
NM_000785.4
p.V183L
c.547G>C
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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."