Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.M196T

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.M196T
c.587T>C
Surrounding Variants
1 paper
NM_001360.3
p.M196V
c.586A>G
3 papers
NM_001360.3
p.A195T
c.583G>A
5 papers
NM_001360.3
p.K198E
c.592A>G
1 paper
NM_001360.3
p.G199S
c.595G>A
1 paper
NM_001360.3
p.G199D
c.596G>A
1 paper
NM_001360.3
p.T193P
c.577A>C
10 papers
NM_001360.3
p.S192F
c.575C>T
1 paper
NM_001360.3
p.Y200S
c.599A>C
1 paper
NM_001360.3
p.F201L
c.601T>C
1 paper
NM_001360.3
p.V191I
c.571G>A
1 paper
NM_001360.3
p.F201L
c.603C>G
1 paper
NM_001360.3
p.F201L
c.603C>A
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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."