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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B14

Variant:p.N31D

HSD17B14

34 papers

RefSeq Summary

17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xen...

Pfam Domains

adh_short_C2aa 16–250UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 14

HGNC Previous Symbol

DHRS10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

5 papers

chr19:48835841 T>C

NM_016246.3

p.N31D

c.91A>G

adh_short_C2

Exome: 25.2% (AC=368159, hom=49506)Genome: 33.3% (AC=50528, hom=9875)14 overlapping SVs

Surrounding Variants

1 paper

chr19:48835825 A>T

NM_016246.3

p.V36E

c.107T>A

adh_short_C2

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=12, hom=0)14 overlapping SVs

2 papers

chr19:48836333 G>A

NM_016246.3

p.R27C

c.79C>T

adh_short_C2

Exome: 0.2% (AC=3191, hom=4)Genome: 0.2% (AC=315, hom=0)14 overlapping SVs

1 paper

chr19:48836347 C>T

NM_016246.3

p.G22E

c.65G>A

adh_short_C2

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 overlapping SVs

9 papers

chr19:48836366 C>A

NM_016246.3

p.G16W

c.46G>T

adh_short_C2

Exome: 0.6% (AC=9385, hom=51)Genome: 0.4% (AC=622, hom=5)14 overlapping SVs

1 paper

chr19:48836387 C>G

NM_016246.3

p.G9R

c.25G>C

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:48836387 C>T

NM_016246.3

p.G9R

c.25G>A

Exome: n/aGenome: 0.0% (AC=1, hom=0)14 overlapping SVs

1 paper

chr19:48836404 G>A

NM_016246.3

p.T3M

c.8C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

1 paper

chr19:48834347 G>A

NM_016246.3

p.R47W

c.139C>T

adh_short_C2

Exome: 0.0% (AC=81, hom=1)Genome: 0.0% (AC=5, hom=0)15 overlapping SVs

1 paper

chr19:48834346 C>T

NM_016246.3

p.R47Q

c.140G>A

adh_short_C2

Exome: 0.0% (AC=22, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr19:48834338 C>T

NM_016246.3

p.E50K

c.148G>A

adh_short_C2

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=14, hom=0)15 overlapping SVs

1 paper

chr19:48834336 C>T

NM_016246.3

p.E50E

c.150G>A

adh_short_C2

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

2 papers

chr19:48834320 C>T

NM_016246.3

p.A56T

c.166G>A

adh_short_C2

Exome: 1.0% (AC=14185, hom=111)Genome: 0.9% (AC=1342, hom=18)15 overlapping SVs

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