Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.V466A

DHCR7

556 papers

RefSeq Summary

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and it...

Pfam Domains

ERG4_ERG24aa 40–475UCSCErgosterol biosynthesis ERG4/ERG24 family

Gene Aliases

HGNC Name

7-dehydrocholesterol reductase

HGNC Previous Symbol

SLOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001360.3
p.V466A
c.1397T>C
Surrounding Variants
8 papers
NM_001360.3
p.V466M
c.1396G>A
1 paper
NM_001360.3
p.P467T
c.1399C>A
13 papers
NM_001360.3
p.P467L
c.1400C>T
1 paper
NM_001360.3
p.R469C
c.1405C>T
1 paper
NM_001360.3
p.T463_A464insFs
c.1389_1390insT
11 papers
NM_001360.3
p.R469P
c.1406G>C
2 papers
NM_001360.3
p.R469H
c.1406G>A
8 papers
NM_001360.3
p.L470Q
c.1409T>A
17 papers
NM_001360.3
p.Y462H
c.1384T>C
3 papers
NM_001360.3
p.R461C
c.1381C>T
1 paper
NM_001360.3
p.W459*
c.1377G>A
1 paper
NM_001360.3
p.W459*
c.1376G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."