Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.Y439delFs

CYP11B1

451 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 42–498UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 11 subfamily B member 1

HGNC Alias Symbols

P450C11; FHI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000497.4
p.Y439delFs
c.1316_1317delGT
Surrounding Variants
2 papers
NM_000497.4
p.F438_Y439del1
c.1313_1315delAGA
4 papers
NM_000497.4
p.Y439H
c.1315T>C
1 paper
NM_000497.4
p.Y439fs
c.1315_1316fs
15 papers
NM_000497.4
p.V441G
c.1322T>G
1 paper
NM_000497.4
p.P442L
c.1325C>T
16 papers
NM_000497.4
p.G444D
c.1331G>A
1 paper
NM_000497.4
p.P442_G444delFs
c.1325_1332del8
6 papers
NM_000497.4
p.G446S
c.1336G>A
7 papers
NM_000497.4
p.G446V
c.1337G>T
3 papers
NM_000497.4
p.G446D
c.1337G>A
1 paper
NM_000497.4
p.G433fs
c.1297_1298fs
1 paper
NM_000497.4
p.R432_G433insFs
c.1296_1297insA
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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."