Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.T81N

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
2 papers
NM_003725.4
p.T81N
c.242C>A
Surrounding Variants
1 paper
NM_003725.4
p.T81I
c.242C>T
1 paper
NM_003725.4
p.T81_L82ins5
c.241_245ins15
1 paper
NM_003725.4
p.T81A
c.241A>G
1 paper
NM_003725.4
p.L82L
c.244C>T
1 paper
NM_003725.4
p.V80A
c.239T>C
2 papers
NM_003725.4
p.V80M
c.238G>A
1 paper
NM_003725.4
p.D83_M87delFs
c.249_259del11
1 paper
NM_003725.4
p.D83G
c.248A>G
1 paper
NM_003725.4
p.T79R
c.236C>G
1 paper
NM_003725.4
p.T79M
c.236C>T
1 paper
NM_003725.4
p.T79insFs
c.236_237ins7
1 paper
NM_003725.4
p.T79A
c.235A>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."