Varaico: Literature-Extracted Genetic Variants

Gene:CYP11A1

CYP11A1

319 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 52–511UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 11 subfamily A member 1

HGNC Alias Symbol

P450SCC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 235 variants
33 papers
NM_000781.3
p.E314K
c.940G>A
21 papers
NM_000781.3
p.R451W
c.1351C>T
20 papers
NM_000781.3
p.H295R
c.884A>G
19 papers
NM_000781.3
p.A359V
c.1076C>T
18 papers
NM_000781.3
p.R353W
c.1057C>T
17 papers
NM_000781.3
p.A189V
c.566C>T
13 papers
NM_000781.3
p.L141W
c.422T>G
13 papers
NM_000781.3
p.V415E
c.1244T>A
12 papers
NM_000781.3
p.L222P
c.665T>C
12 papers
NM_000781.3
p.R360W
c.1078C>T
11 papers
NM_000781.3
p.R405*
c.1213C>T
10 papers
NM_000781.3
p.I279delFs
c.835delT
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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."