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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B12

Variant:p.E69_L70Splc

HSD17B12

64 papers

RefSeq Summary

This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [prov...

Pfam Domains

adh_shortaa 51–248UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 12

HGNC Alias Symbols

KAR; SDR12C1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:43751044 G>A

NM_016142.3

p.E69_L70Splc

c.207+87G>A

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=10, hom=0)21 overlapping SVs

Surrounding Variants

1 paper

chr11:43751063 T>C

NM_016142.3

p.E69_L70Splc

c.207+106T>C

Exome: 0.1% (AC=688, hom=1)Genome: 0.1% (AC=135, hom=0)21 overlapping SVs

1 paper

chr11:43750999 A>G

NM_016142.3

p.E69_L70Splc

c.207+42A>G

Exome: 41.1% (AC=481850, hom=101957)Genome: 33.6% (AC=51048, hom=9914)21 overlapping SVs

1 paper

chr11:43750915 C>A

NM_016142.3

p.V55V

c.165C>A

adh_short

Exome: 0.0% (AC=0, hom=0)Genome: n/a21 overlapping SVs

1 paper

chr11:43750910 G>C

NM_016142.3

p.V54Splc

c.161-1G>C

adh_short

exact variant not in gnomAD21 overlapping SVs

1 paper

chr11:43754050 C>G

NM_016142.3

p.A71G

c.212C>G

adh_short

exact variant not in gnomAD21 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."