Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.E214_E215del0

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
2 papers
NM_000197.2
p.E214_E215del0
c.640_645del6
Surrounding Variants
19 papers
NM_000197.2
p.E215D
c.645A>T
19 papers
NM_000197.2
p.E215D
c.645A>C
2 papers
NM_000197.2
p.E214G
c.641A>G
1 paper
NM_000197.2
p.Q213_E214insFs
c.639_640insA
2 papers
NM_000197.2
p.E214fs
c.640_641fs
1 paper
NM_000197.2
p.Q213P
c.638A>C
6 papers
NM_000197.2
p.L212Q
c.635T>A
2 papers
NM_000197.2
p.S209P
c.625T>C
1 paper
NM_000197.2
p.I223V
c.667A>G
5 papers
NM_000197.2
p.F208I
c.622T>A
1 paper
NM_000197.2
p.A207E
c.620C>A
1 paper
NM_000197.2
p.Q224_V225Splc
c.672+1G>A
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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."