Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.T259I

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.T259I
c.776C>T
Surrounding Variants
1 paper
NM_003725.4
p.S258N
c.773G>A
1 paper
NM_003725.4
p.S258_V264del7
c.772_791del21
3 papers
NM_003725.4
p.N256K
c.768T>A
3 papers
NM_003725.4
p.N256K
c.768T>G
1 paper
NM_003725.4
p.N256T
c.767A>C
3 papers
NM_003725.4
p.N262S
c.785A>G
2 papers
NM_003725.4
p.N256I
c.767A>T
1 paper
NM_003725.4
p.N256Y
c.766A>T
1 paper
NM_003725.4
p.L263insFs
c.787_788dupCT
1 paper
NM_003725.4
p.L263del1
c.787_788delCTG
1 paper
NM_003725.4
p.L263Q
c.788T>A
1 paper
NM_003725.4
p.V264G
c.791T>G
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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."