Varaico: Literature-Extracted Genetic Variants

HSD3B7

79 papers

RefSeq Summary

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded pro...

Pfam Domains

3Beta_HSDaa 13–290UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

HGNC Alias Symbols

C(27)-3BETA-HSD; SDR11E3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025193.4

p.A327S

c.979G>T

Surrounding Variants

1 paper

NM_025193.4

p.A327T

c.979G>A

1 paper

NM_025193.4

p.T330del1

c.988_990delACC

1 paper

NM_025193.4

p.A325insFs

c.973_974ins5

2 papers

NM_025193.4

p.A325insFs

c.974_975ins5

1 paper

NM_025193.4

p.L324fs

c.970_971fs

2 papers

NM_025193.4

p.T323R

c.968C>G

1 paper

NM_025193.4

p.T323M

c.968C>T

1 paper

NM_025193.4

p.Y322insFs

c.964_965dupTA

1 paper

NM_025193.4

p.L319insFs

c.956_957insCC

1 paper

NM_025193.4

p.L318Q

c.953T>A

1 paper

NM_025193.4

p.R340H

c.1019G>A

1 paper

NM_025193.4

p.Y344C

c.1031A>G