Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.I245T

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.I245T
c.734T>C
Surrounding Variants
1 paper
NM_001360.3
p.V246I
c.736G>A
2 papers
NM_001360.3
p.N240_I245delFs
c.720_735del16
17 papers
NM_001360.3
p.G244R
c.730G>C
23 papers
NM_001360.3
p.G244R
c.730G>A
2 papers
NM_001360.3
p.A247T
c.739G>A
28 papers
NM_001360.3
p.A247V
c.740C>T
11 papers
NM_001360.3
p.P243R
c.728C>G
7 papers
NM_001360.3
p.W248R
c.742T>C
7 papers
NM_001360.3
p.W248R
c.742T>A
25 papers
NM_001360.3
p.R242H
c.725G>A
14 papers
NM_001360.3
p.W248C
c.744G>T
11 papers
NM_001360.3
p.W248C
c.744G>C
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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."