Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B12
Variant:p.N152_V153Splc

HSD17B12

64 papers

RefSeq Summary

This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [prov...

Pfam Domains

adh_shortaa 51–248UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 12

HGNC Alias Symbols

KAR; SDR12C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016142.3
p.N152_V153Splc
c.456+195T>C
Surrounding Variants
1 paper
NM_016142.3
p.N152_V153Splc
c.456+294G>A
1 paper
NM_016142.3
p.N152_V153Splc
c.456+84C>T
1 paper
NM_016142.3
p.M136I
c.408G>A
1 paper
NM_016142.3
p.M136I
c.408G>C
1 paper
NM_016142.3
p.M136I
c.408G>T
2 papers
NM_016142.3
p.G135V
c.404G>T
1 paper
NM_016142.3
p.V153V
c.459G>A
1 paper
NM_016142.3
p.S164P
c.490T>C
1 paper
NM_016142.3
p.S164S
c.492T>C
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