Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B12

Variant:p.R243Q

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

chr11:43854758 G>A

NM_016142.3

p.R243Q

c.728G>A

adh_short

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=9, hom=0)19 overlapping SVs

Surrounding Variants

1 paper

chr11:43854757 C>T

NM_016142.3

p.R243W

c.727C>T

adh_short

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr11:43854782 C>T

NM_016142.3

p.S251F

c.752C>T

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:43854809 T>G

NM_016142.3

p.I260S

c.779T>G

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:43854885 A>G

NM_016142.3

p.M278_G279Splc

c.834+21A>G

Exome: 31.4% (AC=457971, hom=73745)Genome: 35.2% (AC=53481, hom=9856)20 overlapping SVs

1 paper

chr11:43854990 A>G

NM_016142.3

p.M278_G279Splc

c.834+126A>G

Exome: 6.0% (AC=56567, hom=1814)Genome: 6.0% (AC=9203, hom=297)20 overlapping SVs

5 papers

chr11:43855148 C>T

NM_016142.3

p.S280L

c.839C>T

Exome: 31.0% (AC=444886, hom=71282)Genome: 34.9% (AC=53045, hom=9665)20 overlapping SVs

1 paper

chr11:43855205 A>G

NM_016142.3

p.K299R

c.896A>G

exact variant not in gnomAD19 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."