Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.I249I

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.I249I
c.747C>A
Surrounding Variants
1 paper
NM_003725.4
p.M250I
c.750G>A
1 paper
NM_003725.4
p.N248N
c.744T>C
1 paper
NM_003725.4
p.K251Q
c.751A>C
2 papers
NM_003725.4
p.N248S
c.743A>G
1 paper
NM_003725.4
p.E252_N260del9
c.754_779del27
1 paper
NM_003725.4
p.E252insFs
c.755_756insT
1 paper
NM_003725.4
p.Y247D
c.739T>G
1 paper
NM_003725.4
p.G253R
c.757G>A
1 paper
NM_003725.4
p.N256Y
c.766A>T
1 paper
NM_003725.4
p.N256T
c.767A>C
2 papers
NM_003725.4
p.N256I
c.767A>T
3 papers
NM_003725.4
p.N256K
c.768T>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."