Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G70C

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.G70C
c.208G>T
Surrounding Variants
4 papers
NM_001360.3
p.G70S
c.208G>A
6 papers
NM_001360.3
p.T69T
c.207T>C
9 papers
NM_001360.3
p.L68P
c.203T>C
10 papers
NM_001360.3
p.A67T
c.199G>A
3 papers
NM_001360.3
p.S65del1
c.193_194delGCT
1 paper
NM_001425114.1
p.C33W
c.99C>G
1 paper
NM_001360.3
p.D74A
c.221A>C
2 papers
NM_001360.3
p.I75F
c.223A>T
2 papers
NM_001360.3
p.V76I
c.226G>A
5 papers
NM_001360.3
p.Q63Q
c.189G>A
1 paper
NM_001360.3
p.Q63*
c.187C>T
1 paper
NM_001360.3
p.Q63E
c.187C>G
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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."