Varaico: Literature-Extracted Genetic Variants

Gene:CYP51A1

CYP51A1

182 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 67–502UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 51 subfamily A member 1

HGNC Previous Symbol

CYP51

Papers
RefSeq ID
Protein change
DNA change
1–12 of 181 variants
10 papers
NM_000786.4
p.Y137F
c.410A>T
7 papers
NM_000786.4
p.Y48N
c.142T>A
7 papers
NM_000786.4
p.V136A
c.407T>C
7 papers
NM_000786.4
p.T142A
c.424A>G
6 papers
NM_000786.4
p.S117C
c.349A>T
6 papers
NM_000786.4
p.L232P
c.695T>C
6 papers
NM_000786.4
p.R277C
c.829C>T
6 papers
NM_000786.4
p.I312T
c.935T>C
4 papers
NM_000786.4
p.Y137H
c.409T>C
4 papers
NM_000786.4
p.W421*
c.1263G>A
3 papers
NM_000786.4
p.L46L
c.138G>C
3 papers
NM_000786.4
p.F83Y
c.248T>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."