Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L49L

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.L49L
c.147G>A
Surrounding Variants
1 paper
NM_003725.4
p.D50N
c.148G>A
1 paper
NM_003725.4
p.L49P
c.146T>C
2 papers
NM_003725.4
p.D50V
c.149A>T
1 paper
NM_003725.4
p.Q48H
c.144G>C
1 paper
NM_003725.4
p.D50E
c.150T>A
1 paper
NM_003725.4
p.D50E
c.150T>G
1 paper
NM_003725.4
p.A51V
c.152C>T
1 paper
NM_003725.4
p.R52R
c.154C>A
1 paper
NM_003725.4
p.R52G
c.154C>G
3 papers
NM_003725.4
p.R47K
c.140G>A
1 paper
NM_003725.4
p.A46A
c.138C>A
1 paper
NM_003725.4
p.A46D
c.137C>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."