Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B13
Variant:p.W150*

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
Selected Variant
1 paper
NM_178135.5
p.W150*
c.450G>A
Surrounding Variants
1 paper
NM_178135.5
p.F149del1
c.445_446delAAA
1 paper
NM_178135.5
p.I137V
c.409A>G
1 paper
NM_178135.5
p.A127A
c.381C>T
1 paper
NM_178135.5
p.R102C
c.304C>T
2 papers
NM_178135.5
p.E98_I100delFs
c.294_298del5
1 paper
NM_178135.5
p.E98fs
c.292_293fs
1 paper
NM_178135.5
p.E98fs
c.292_293fs
1 paper
NM_178135.5
p.R71H
c.212G>A
1 paper
NM_178135.5
p.E161K
c.481G>A
1 paper
NM_178135.5
p.I167V
c.499A>G
2 papers
NM_178135.5
p.S172A
c.514T>G
1 paper
NM_178135.5
p.G178E
c.533G>A
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