Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.A257V

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.A257V
c.770C>T
Surrounding Variants
9 papers
NM_001360.3
p.F255L
c.765C>G
2 papers
NM_001360.3
p.F255insFs
c.763_764insT
1 paper
NM_001360.3
p.F255fs
c.763_764fs
9 papers
NM_001360.3
p.F255L
c.765C>A
9 papers
NM_001360.3
p.F255L
c.763T>C
2 papers
NM_001360.3
p.R260G
c.778C>G
4 papers
NM_001360.3
p.S254_F255insFs
c.762_763insT
1 paper
NM_001360.3
p.S254_F255insFs
c.762_763insTA
1 paper
NM_001360.3
p.R260Q
c.779G>A
5 papers
NM_001360.3
p.S254A
c.760T>G
1 paper
NM_001360.3
p.S254P
c.760T>C
1 paper
NM_001360.3
p.E261K
c.781G>A
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