Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L263Q

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
1 paper
NM_003725.4
p.L263Q
c.788T>A
Surrounding Variants
1 paper
NM_003725.4
p.L263insFs
c.787_788dupCT
1 paper
NM_003725.4
p.L263del1
c.787_788delCTG
3 papers
NM_003725.4
p.N262S
c.785A>G
1 paper
NM_003725.4
p.V264G
c.791T>G
1 paper
NM_003725.4
p.V264_T265insFs
c.792_793insG
1 paper
NM_003725.4
p.T265A
c.793A>G
1 paper
NM_003725.4
p.T265I
c.794C>T
1 paper
NM_003725.4
p.T265T
c.795T>G
1 paper
NM_003725.4
p.D266N
c.796G>A
1 paper
NM_003725.4
p.D266Y
c.796G>T
1 paper
NM_003725.4
p.D266delFs
c.797delA
1 paper
NM_003725.4
p.T259I
c.776C>T
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."