Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.W459R

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
1 paper
NM_001360.3
p.W459R
c.1375T>C
Surrounding Variants
1 paper
NM_001360.3
p.W459R
c.1375T>A
1 paper
NM_001360.3
p.W459*
c.1376G>A
1 paper
NM_001360.3
p.W459*
c.1377G>A
2 papers
NM_001360.3
p.R457L
c.1370G>T
2 papers
NM_001360.3
p.R457Q
c.1370G>A
3 papers
NM_001360.3
p.R461C
c.1381C>T
1 paper
NM_001360.3
p.R457W
c.1369C>T
17 papers
NM_001360.3
p.Y462H
c.1384T>C
2 papers
NM_001360.3
p.G456S
c.1366G>A
1 paper
NM_001360.3
p.T463_A464insFs
c.1389_1390insT
8 papers
NM_001360.3
p.V466M
c.1396G>A
2 papers
NM_001360.3
p.A452T
c.1354G>A
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