Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.E352D

CYP21A2

1,211 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 29–481UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 21 subfamily A member 2

HGNC Previous Symbols

CYP21; CYP21B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000500.9
p.E352D
c.1056G>C
Surrounding Variants
1 paper
NM_000500.9
p.E352D
c.1056G>T
4 papers
NM_000500.9
p.E352V
c.1055A>T
7 papers
NM_000500.9
p.E352K
c.1054G>A
1 paper
NM_000500.9
p.V353A
c.1058T>C
1 paper
NM_000500.9
p.A351T
c.1051G>A
1 paper
NM_000500.9
p.A351delFs
c.1052delC
3 papers
NM_000500.9
p.L354R
c.1061T>G
12 papers
NM_000500.9
p.R355C
c.1063C>T
8 papers
NM_000500.9
p.R355H
c.1064G>A
4 papers
NM_000500.9
p.R355P
c.1064G>C
23 papers
NM_000500.9
p.L356L
c.1066C>T
1 paper
NM_000500.9
p.T349fs
c.1045_1046fs
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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."