Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B2

HSD17B2

71 papers

Pfam Domains

adh_shortaa 83–278UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 2

HGNC Alias Symbols

HSD17; SDR9C2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
4 papers
NM_002153.3
p.G271C
c.811G>T
3 papers
NM_002153.3
p.D91H
c.271G>C
3 papers
NM_002153.3
p.M226V
c.676A>G
3 papers
NM_002153.3
p.*388W
c.1163A>G
2 papers
NM_002153.3
p.Y232*
c.696T>A
2 papers
NM_002153.3
p.Y232*
c.696T>G
2 papers
NM_002153.3
p.L250P
c.749T>C
2 papers
NM_002153.3
p.S312S
c.936G>A
2 papers
NM_002153.3
p.P320L
c.959C>T
1 paper
NM_002153.3
p.M1insFs
c.3dupG
1 paper
NM_002153.3
p.V15D
c.44T>A
1 paper
NM_002153.3
p.W35*
c.104G>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."