Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.R395Splc

CYP27A1

609 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 61–526UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 27 subfamily A member 1

HGNC Previous Symbol

CYP27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
42 papers
NM_000784.4
p.R395Splc
c.1184+1G>A
Surrounding Variants
1 paper
NM_000784.4
p.R395Splc
c.1184+1G>T
10 papers
NM_000784.4
p.R395H
c.1184G>A
1 paper
NM_000784.4
p.R395insFs
c.1184_1185insT
4 papers
NM_000784.4
p.R395L
c.1184G>T
16 papers
NM_000784.4
p.R395S
c.1183C>A
3 papers
NM_000784.4
p.R395insFs
c.1183_1184insT
61 papers
NM_000784.4
p.R395C
c.1183C>T
2 papers
NM_000784.4
p.R395fs
c.1183_1184fs
3 papers
NM_000784.4
p.L394P
c.1181T>C
4 papers
NM_000784.4
p.L394fs
c.1180_1181fs
3 papers
NM_000784.4
p.L394delFs
c.1180_1181delCT
1 paper
NM_000784.4
p.E392D
c.1176G>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."