Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B13
Variant:p.I62R

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.I62R
c.185T>G
Surrounding Variants
1 paper
NM_178135.5
p.Q60K
c.178C>A
1 paper
NM_178135.5
p.R59*
c.175C>T
1 paper
NM_178135.5
p.K58*
c.172A>T
1 paper
NM_178135.5
p.V64_W66del3
c.190_197del9
1 paper
NM_178135.5
p.A57S
c.169G>T
1 paper
NM_178135.5
p.E55D
c.165A>T
2 papers
NM_178135.5
p.G49A
c.146G>C
1 paper
NM_178135.5
p.G47A
c.140G>C
1 paper
NM_178135.5
p.E37V
c.110A>T
3 papers
NM_178135.5
p.S33A
c.97T>G
1 paper
NM_178135.5
p.F25L
c.75T>G
1 paper
NM_178135.5
p.F25L
c.75T>A
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