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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B7

HSD17B7

37 papers

RefSeq Summary

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynt...

Pfam Domains

adh_shortaa 3–236UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 7

HGNC Alias Symbol

SDR37C1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 35 variants

3 papers

chr1:162799813 G>A

NM_016371.4

p.S173N

c.518G>A

adh_short

Exome: n/aGenome: 0.0% (AC=0, hom=0)230 overlapping SVs

3 papers

chr1:162812355 A>G

NM_016371.4

p.K321E

c.961A>G

Exome: 4.2% (AC=61785, hom=1794)Genome: 5.2% (AC=7965, hom=257)230 overlapping SVs

2 papers

chr1:162805477 C>T

NM_016371.4

p.Y296Y

c.888C>T

Exome: 31.1% (AC=453832, hom=73248)Genome: 27.2% (AC=41414, hom=6134)231 overlapping SVs

1 paper

chr1:162790814 T>C

NM_016371.4

p.V5A

c.14T>C

adh_short

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:162790818 G>C

NM_016371.4

p.L6F

c.18G>C

adh_short

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:162790818 G>T

NM_016371.4

p.L6F

c.18G>T

adh_short

Exome: 0.0% (AC=0, hom=0)Genome: n/a231 overlapping SVs

1 paper

chr1:162790829 C>T

NM_016371.4

p.A10V

c.29C>T

adh_short

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:162790832 G>C

NM_016371.4

p.S11T

c.32G>C

adh_short

Exome: 0.5% (AC=6620, hom=62)Genome: 0.3% (AC=513, hom=6)231 overlapping SVs

1 paper

chr1:162792678 T>G

NM_016371.4

p.C19G

c.55T>G

adh_short

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=3, hom=0)232 overlapping SVs

1 paper

chr1:162792750 G>GT

NM_016371.4

p.A43insFs

c.127_128insT

adh_short

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:162792849 G>T

NM_016371.4

p.E76*

c.226G>T

adh_short

Exome: 0.0% (AC=1, hom=0)Genome: n/a232 overlapping SVs

1 paper

chr1:162792859 A>G

NM_016371.4

p.Q79R

c.236A>G

adh_short

Exome: 0.0% (AC=6, hom=0)Genome: n/a232 overlapping SVs

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