Varaico: Literature-Extracted Genetic Variants

Gene:CYP27C1

CYP27C1

18 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 69–533UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 27 subfamily C member 1

HGNC Alias Symbol

FLJ16008

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
3 papers
NM_001367502.1
p.E366delFs
c.1096delC
2 papers
NM_001367502.1
p.R99R
c.297G>A
1 paper
NM_001367502.1
p.G23insFs
c.67_68insT
1 paper
NM_001367502.1
p.L37P
c.110T>C
1 paper
NM_001367502.1
p.P63L
c.188C>T
1 paper
NM_001367502.1
p.A67T
c.199G>A
1 paper
NM_001367502.1
p.P70P
c.210G>T
1 paper
NM_001367502.1
p.R99W
c.295C>T
1 paper
NM_001367502.1
p.G208E
c.623G>A
1 paper
NM_001367502.1
p.L235F
c.705G>T
1 paper
NM_001367502.1
p.L235F
c.705G>C
1 paper
NM_001367502.1
p.L253Q
c.758T>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."