Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L77Q

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.L77Q
c.230T>A
Surrounding Variants
1 paper
NM_003725.4
p.E78Q
c.232G>C
2 papers
NM_003725.4
p.E78A
c.233A>C
1 paper
NM_003725.4
p.E78G
c.233A>G
1 paper
NM_003725.4
p.T79insFs
c.236_237ins7
1 paper
NM_003725.4
p.T79A
c.235A>G
1 paper
NM_003725.4
p.D75E
c.225C>A
1 paper
NM_003725.4
p.D75delFs
c.225delC
1 paper
NM_003725.4
p.T79R
c.236C>G
1 paper
NM_003725.4
p.T79M
c.236C>T
2 papers
NM_003725.4
p.V80M
c.238G>A
1 paper
NM_003725.4
p.S74S
c.222T>A
1 paper
NM_003725.4
p.V80A
c.239T>C
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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."