Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.R191insFs

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.R191insFs
c.572_573ins4
Surrounding Variants
2 papers
NM_003725.4
p.R191T
c.572G>C
1 paper
NM_003725.4
p.F186L
c.558T>A
1 paper
NM_003725.4
p.F186L
c.558T>G
1 paper
NM_003725.4
p.F186L
c.556T>C
1 paper
NM_003725.4
p.A185G
c.554C>G
1 paper
NM_003725.4
p.A185V
c.554C>T
21 papers
NM_003725.4
p.Y181D
c.541T>G
1 paper
NM_003725.4
p.K180delFs
c.540delG
1 paper
NM_003725.4
p.K180Q
c.538A>C
1 paper
NM_003725.4
p.K180E
c.538A>G
1 paper
NM_003725.4
p.C177W
c.531T>G
1 paper
NM_003725.4
p.C177Y
c.530G>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."