Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.K237R

HSD17B3

206 papers

RefSeq Summary

This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor....

Pfam Domains

adh_shortaa 49–244UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 3

HGNC Alias Symbol

SDR12C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000197.2
p.K237R
c.710A>G
Surrounding Variants
1 paper
NM_000197.2
p.Y238C
c.713A>G
1 paper
NM_000197.2
p.L239R
c.716T>G
1 paper
NM_000197.2
p.M235T
c.704T>C
12 papers
NM_000197.2
p.M235V
c.703A>G
1 paper
NM_000197.2
p.A234S
c.700G>T
1 paper
NM_000197.2
p.S232_T233delins
c.694_698delinsCCCAT
1 paper
NM_000197.2
p.S232_T233Fs
c.694_698delinsCCCATAFs
1 paper
NM_000197.2
p.S232_T233Fs
c.694_698delinsCCCATACFs
20 papers
NM_000197.2
p.S232L
c.695C>T
1 paper
NM_000197.2
p.S232P
c.694T>C
1 paper
NM_000197.2
p.S232Fs
c.694delinsCCCATAFs
2 papers
NM_000197.2
p.S232fs
c.694_695fs
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."