Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B13

HSD17B13

72 papers

Pfam Domains

adh_shortaa 37–233UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 13

HGNC Alias Symbols

SCDR9; SDR16C3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
13 papers
NM_178135.5
p.P260S
c.778C>T
11 papers
NM_178135.5
p.M1insFs
c.2dupT
3 papers
NM_178135.5
p.S33A
c.97T>G
3 papers
NM_178135.5
p.A192fs
c.574_575fs
3 papers
NM_178135.5
p.A192fs
c.574_575fs
3 papers
NM_178135.5
p.S201*
c.602C>G
3 papers
NM_178135.5
p.S201*
c.602C>A
2 papers
NM_178135.5
p.G49A
c.146G>C
2 papers
NM_178135.5
p.E98_I100delFs
c.294_298del5
2 papers
NM_178135.5
p.S172A
c.514T>G
2 papers
NM_178135.5
p.A191delFs
c.573delG
1 paper
NM_178135.5
p.M1insFs
c.1dupA
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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."