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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP1B1

CYP1B1

1,108 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 51–520UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 1 subfamily B member 1

HGNC Previous Symbol

GLC3A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 885 variants

334 papers

chr2:38071060 G>C

NM_000104.4

p.L432V

c.1294C>G

p450

Exome: 41.8% (AC=610248, hom=134968)Genome: 49.3% (AC=74925, hom=21268)99 overlapping SVs

244 papers

chr2:38070996 T>C

NM_000104.4

p.N453S

c.1358A>G

p450

Exome: 17.5% (AC=256523, hom=24213)Genome: 12.9% (AC=19705, hom=1623)99 overlapping SVs

237 papers

chr2:38075034 C>A

NM_000104.4

p.A119S

c.355G>T

p450

Exome: 29.4% (AC=422171, hom=64083)Genome: 34.8% (AC=52986, hom=9842)98 overlapping SVs

232 papers

chr2:38075247 G>C

NM_000104.4

p.R48G

c.142C>G

Exome: 29.1% (AC=419924, hom=63500)Genome: 35.8% (AC=54510, hom=10687)98 overlapping SVs

160 papers

chr2:38071251 C>T

NM_000104.4

p.R368H

c.1103G>A

p450

Exome: 0.3% (AC=4723, hom=87)Genome: 0.2% (AC=308, hom=2)99 overlapping SVs

159 papers

chr2:38075207 C>T

NM_000104.4

p.G61E

c.182G>A

p450

Exome: 0.0% (AC=453, hom=2)Genome: 0.0% (AC=33, hom=0)98 overlapping SVs

99 papers

chr2:38074704 C>T

NM_000104.4

p.E229K

c.685G>A

p450

Exome: 0.9% (AC=12443, hom=181)Genome: 0.6% (AC=945, hom=14)98 overlapping SVs

95 papers

chr2:38071185 C>T

NM_000104.4

p.R390H

c.1169G>A

p450

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=10, hom=0)99 overlapping SVs

94 papers

chr2:38070949 G>A

NM_000104.4

p.R469W

c.1405C>T

p450

Exome: 0.0% (AC=59, hom=1)Genome: 0.0% (AC=8, hom=0)99 overlapping SVs

83 papers

chr2:38071195 C>T

NM_000104.4

p.E387K

c.1159G>A

p450

Exome: 0.0% (AC=385, hom=0)Genome: 0.0% (AC=25, hom=0)99 overlapping SVs

61 papers

chr2:38071026 G>C

NM_000104.4

p.A443G

c.1328C>G

p450

Exome: 0.2% (AC=3065, hom=39)Genome: 1.5% (AC=2276, hom=47)99 overlapping SVs

50 papers

chr2:38075148 A>T

NM_000104.4

p.Y81N

c.241T>A

p450

Exome: 0.4% (AC=5622, hom=25)Genome: 0.3% (AC=530, hom=3)98 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."