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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP8B1

CYP8B1

60 papers

RefSeq Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cho...

Pfam Domains

p450aa 33–493UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 8 subfamily B member 1

HGNC Alias Symbol

CYP12

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 150 variants

6 papers

chr3:42875555 A>G

NM_004391.3

p.S88P

c.262T>C

p450

Exome: 99.9% (AC=1370013, hom=684058)Genome: 98.6% (AC=150121, hom=74023)63 overlapping SVs

4 papers

chr3:42874613 C>T

NM_004391.3

p.V402I

c.1204G>A

p450

Exome: 0.9% (AC=12557, hom=73)Genome: 0.7% (AC=1021, hom=4)63 overlapping SVs

3 papers

chr3:42875734 C>T

NM_004391.3

p.R28H

c.83G>A

Exome: 0.0% (AC=111, hom=0)Genome: 0.0% (AC=13, hom=0)63 overlapping SVs

2 papers

chr3:42875735 G>A

NM_004391.3

p.R28C

c.82C>T

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=9, hom=0)63 overlapping SVs

2 papers

chr3:42875104 T>C

NM_004391.3

p.K238R

c.713A>G

p450

Exome: 0.3% (AC=4009, hom=88)Genome: 2.1% (AC=3203, hom=91)63 overlapping SVs

2 papers

chr3:42874957 G>A

NM_004391.3

p.T287M

c.860C>T

p450

Exome: 0.0% (AC=66, hom=0)Genome: 0.0% (AC=14, hom=0)63 overlapping SVs

2 papers

chr3:42874748 G>A

NM_004391.3

p.L357F

c.1069C>T

p450

Exome: 0.2% (AC=2919, hom=106)Genome: 2.0% (AC=3062, hom=109)63 overlapping SVs

2 papers

chr3:42874573 C>T

NM_004391.3

p.R415Q

c.1244G>A

p450

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=3, hom=0)63 overlapping SVs

2 papers

chr3:42874337 G>A

NM_004391.3

p.R494C

c.1480C>T

p450

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=7, hom=0)63 overlapping SVs

1 paper

chr3:42875789 C>T

NM_004391.3

p.A10T

c.28G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a63 overlapping SVs

1 paper

chr3:42875741 G>A

NM_004391.3

p.R26*

c.76C>T

Exome: 0.0% (AC=65, hom=2)Genome: 0.0% (AC=16, hom=0)63 overlapping SVs

1 paper

chr3:42875740 C>T

NM_004391.3

p.R26Q

c.77G>A

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=3, hom=0)63 overlapping SVs

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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."