Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B2
Variant:p.G271C

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
Selected Variant
4 papers
NM_002153.3
p.G271C
c.811G>T
Surrounding Variants
1 paper
NM_002153.3
p.L287P
c.860T>C
1 paper
NM_002153.3
p.P288H
c.863C>A
1 paper
NM_002153.3
p.D298D
c.894C>T
1 paper
NM_002153.3
p.N268Splc
c.803-102C>G
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.R323Q
c.968G>A
1 paper
NM_002153.3
p.R378R
c.1134A>G
1 paper
NM_002153.3
p.P380A
c.1138C>G
1 paper
NM_002153.3
p.K383Q
c.1147A>C
3 papers
NM_002153.3
p.*388W
c.1163A>G
1 paper
NM_002153.3
p.*388Y
c.1164G>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."