Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
1 paper
NM_003725.4
p.M1fs
c.1_2fs
1 paper
NM_003725.4
p.M1insFs
c.2dupT
7 papers
NM_003725.4
p.M1V
c.1A>G
2 papers
NM_003725.4
p.M1L
c.1A>T
2 papers
NM_003725.4
p.M1K
c.2T>A
4 papers
NM_003725.4
p.M1T
c.2T>C
1 paper
NM_003725.4
p.M1R
c.2T>G
1 paper
NM_003725.4
p.M1insFs
c.3dupG
5 papers
NM_003725.4
p.M1I
c.3G>A
2 papers
NM_003725.4
p.M1I
c.3G>C
2 papers
NM_003725.4
p.M1I
c.3G>T
2 papers
NM_003725.4
p.W2*
c.5G>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."