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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHCR7

Variant:p.V76I

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr11:71444088 C>T

NM_001360.3

p.V76I

c.226G>A

ERG4_ERG24

Exome: 0.1% (AC=1013, hom=17)Genome: 0.0% (AC=57, hom=1)36 overlapping SVs

Surrounding Variants

2 papers

chr11:71444091 T>A

NM_001360.3

p.I75F

c.223A>T

ERG4_ERG24

Exome: 0.0% (AC=401, hom=1)Genome: 0.0% (AC=8, hom=0)36 overlapping SVs

10 papers

chr11:71444083 G>A

NM_001360.3

p.T77T

c.231C>T

ERG4_ERG24

Exome: 6.8% (AC=99345, hom=4048)Genome: 8.7% (AC=13260, hom=649)36 overlapping SVs

1 paper

chr11:71444093 T>G

NM_001360.3

p.D74A

c.221A>C

ERG4_ERG24

exact variant not in gnomAD36 overlapping SVs

2 papers

chr11:71444082 C>G

NM_001360.3

p.G78R

c.232G>C

ERG4_ERG24

Exome: 0.0% (AC=1, hom=0)Genome: n/a36 overlapping SVs

2 papers

chr11:71444082 C>T

NM_001360.3

p.G78R

c.232G>A

ERG4_ERG24

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=1, hom=0)36 overlapping SVs

1 paper

chr11:71444078 T>C

NM_001360.3

p.H79R

c.236A>G

ERG4_ERG24

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)36 overlapping SVs

1 paper

chr11:71444073 G>A

NM_001360.3

p.R81W

c.241C>T

ERG4_ERG24

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=6, hom=0)36 overlapping SVs

3 papers

chr11:71444106 C>A

NM_001360.3

p.G70C

c.208G>T

ERG4_ERG24

Exome: 0.0% (AC=0, hom=0)Genome: n/a36 overlapping SVs

4 papers

chr11:71444106 C>T

NM_001360.3

p.G70S

c.208G>A

ERG4_ERG24

Exome: 0.0% (AC=179, hom=2)Genome: 0.1% (AC=174, hom=0)36 overlapping SVs

6 papers

chr11:71444107 A>G

NM_001360.3

p.T69T

c.207T>C

ERG4_ERG24

Exome: 92.7% (AC=1353425, hom=631854)Genome: 89.6% (AC=136408, hom=61539)36 overlapping SVs

1 paper

chr11:71444066 G>A

NM_001360.3

p.S83L

c.248C>T

ERG4_ERG24

Exome: 0.0% (AC=11, hom=0)Genome: n/a36 overlapping SVs

9 papers

chr11:71444111 A>G

NM_001360.3

p.L68P

c.203T>C

ERG4_ERG24

Exome: 0.0% (AC=2, hom=0)Genome: n/a36 overlapping SVs

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