Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B13
Variant:p.E202A

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.E202A
c.605A>C
Surrounding Variants
3 papers
NM_178135.5
p.S201*
c.602C>G
3 papers
NM_178135.5
p.S201*
c.602C>A
3 papers
NM_178135.5
p.A192fs
c.574_575fs
3 papers
NM_178135.5
p.A192fs
c.574_575fs
2 papers
NM_178135.5
p.A191delFs
c.573delG
1 paper
NM_178135.5
p.A191fs
c.571_572fs
1 paper
NM_178135.5
p.P229L
c.686C>T
1 paper
NM_178135.5
p.Y185F
c.554A>T
1 paper
NM_178135.5
p.G178E
c.533G>A
2 papers
NM_178135.5
p.S172A
c.514T>G
1 paper
NM_178135.5
p.I167V
c.499A>G
1 paper
NM_178135.5
p.E161K
c.481G>A
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