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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP20A1

Variant:p.R109S

CYP20A1

25 papers

RefSeq Summary

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

Pfam Domains

p450aa 41–465UCSCCytochrome P450

Gene Aliases

HGNC Name

cytochrome P450 family 20 subfamily A member 1

HGNC Alias Symbol

CYP-M

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:203252004 G>T

NM_177538.3

p.R109S

c.327G>T

p450

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=22, hom=0)128 overlapping SVs

Surrounding Variants

1 paper

chr2:203252004 G>C

NM_177538.3

p.R109S

c.327G>C

p450

Exome: 0.0% (AC=1, hom=0)Genome: n/a128 overlapping SVs

1 paper

chr2:203252032 G>A

NM_177538.3

p.E119K

c.355G>A

p450

Exome: n/aGenome: 0.0% (AC=1, hom=0)128 overlapping SVs

3 papers

chr2:203251967 C>T

NM_177538.3

p.S97L

c.290C>T

p450

Exome: 95.2% (AC=1331410, hom=635183)Genome: 89.3% (AC=134511, hom=60956)128 overlapping SVs

4 papers

chr2:203246922 C>T

NM_177538.3

p.S97L

c.290C>T

exact variant not in gnomAD127 overlapping SVs

1 paper

chr2:203246864 G>A

NM_177538.3

p.V78M

c.232G>A

p450

Exome: 0.0% (AC=457, hom=1)Genome: 0.0% (AC=44, hom=0)127 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."