Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.A50_P51delFs

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.A50_P51delFs
c.150_151delGG
Surrounding Variants
1 paper
NM_001360.3
p.F52L
c.154T>C
1 paper
NM_001360.3
p.A50delFs
c.150delG
4 papers
NM_001360.3
p.P51H
c.152C>A
31 papers
NM_001360.3
p.P51S
c.151C>T
1 paper
NM_001360.3
p.I53S
c.158T>G
3 papers
NM_001360.3
p.A50V
c.149C>T
4 papers
NM_001360.3
p.A50D
c.149C>A
1 paper
NM_001360.3
p.A50T
c.148G>A
2 papers
NM_001360.3
p.Y55*
c.165C>G
2 papers
NM_001360.3
p.Y55*
c.165C>A
4 papers
NM_001360.3
p.L47L
c.139C>T
1 paper
NM_001360.3
p.L46fs
c.136_137fs
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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."