Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.A287P

HSD17B6

983 papers

RefSeq Summary

The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, ...

Pfam Domains

adh_shortaa 30–224UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 6

HGNC Alias Symbols

HSE; RODH; SDR9C6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
49 papers
NM_003725.4
p.A287P
c.859G>C
Surrounding Variants
2 papers
NM_003725.4
p.A287S
c.859G>T
1 paper
NM_003725.4
p.K288R
c.863A>G
2 papers
NM_003725.4
p.F289insFs
c.865_866insT
1 paper
NM_003725.4
p.K288N
c.864A>C
1 paper
NM_003725.4
p.K288N
c.864A>T
1 paper
NM_003725.4
p.W285*
c.854G>A
2 papers
NM_003725.4
p.F289L
c.865T>C
2 papers
NM_003725.4
p.F289L
c.867T>A
2 papers
NM_003725.4
p.F289L
c.867T>G
1 paper
NM_003725.4
p.F290V
c.868T>G
1 paper
NM_003725.4
p.F290delFs
c.870delC
1 paper
NM_003725.4
p.S282*
c.845C>A
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."