Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B7
Variant:p.L6F

HSD17B7

37 papers

RefSeq Summary

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynt...

Pfam Domains

adh_shortaa 3–236UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 7

HGNC Alias Symbol

SDR37C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016371.4
p.L6F
c.18G>T
Surrounding Variants
1 paper
NM_016371.4
p.L6F
c.18G>C
1 paper
NM_016371.4
p.V5A
c.14T>C
1 paper
NM_016371.4
p.A10V
c.29C>T
1 paper
NM_016371.4
p.S11T
c.32G>C
1 paper
NM_016371.4
p.C19G
c.55T>G
1 paper
NM_016371.4
p.A43insFs
c.127_128insT
1 paper
NM_016371.4
p.E76*
c.226G>T
1 paper
NM_016371.4
p.Q79R
c.236A>G
1 paper
NM_016371.4
p.R80Splc
c.239+3A>G
1 paper
NM_016371.4
p.Q82H
c.246G>C
1 paper
NM_016371.4
p.Q82H
c.246G>T
1 paper
NM_016371.4
p.N100S
c.299A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."