Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B7
Variant:p.Q82H

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.Q82H
c.246G>C
Surrounding Variants
1 paper
NM_016371.4
p.Q82H
c.246G>T
1 paper
NM_016371.4
p.N100S
c.299A>G
1 paper
NM_016371.4
p.S110*
c.329C>A
1 paper
NM_016371.4
p.S110*
c.329C>G
1 paper
NM_016371.4
p.R111*
c.331A>T
1 paper
NM_016371.4
p.S118P
c.352T>C
1 paper
NM_016371.4
p.T125I
c.374C>T
1 paper
NM_016371.4
p.G127R
c.379G>C
1 paper
NM_016371.4
p.L149_I150Splc
c.447+35C>G
1 paper
NM_016371.4
p.L149_I150Splc
c.447+66A>G
1 paper
NM_016371.4
p.L149_I150Splc
c.447+449T>C
1 paper
NM_016371.4
p.L153L
c.459G>A
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