Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B2
Variant:p.C48S

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
1 paper
NM_002153.3
p.C48S
c.142T>A
Surrounding Variants
1 paper
NM_002153.3
p.L58F
c.174G>C
1 paper
NM_002153.3
p.S36S
c.108C>T
1 paper
NM_002153.3
p.W35*
c.105G>A
1 paper
NM_002153.3
p.W35*
c.104G>A
1 paper
NM_002153.3
p.M68R
c.203T>G
1 paper
NM_002153.3
p.S73A
c.217T>G
1 paper
NM_002153.3
p.S73F
c.218C>T
1 paper
NM_002153.3
p.V80M
c.238G>A
1 paper
NM_002153.3
p.V15D
c.44T>A
1 paper
NM_002153.3
p.A84A
c.252A>G
1 paper
NM_002153.3
p.G89R
c.265G>C
1 paper
NM_002153.3
p.M1insFs
c.3dupG
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