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

10 papers

NM_025193.4

p.T15_G16delFs

c.45_46delAG

Surrounding Variants

2 papers

NM_025193.4

p.G17fs

c.49_50fs

4 papers

NM_025193.4

p.G17fs

c.49_50fs

1 paper

NM_025193.4

p.Y12*

c.36C>A

1 paper

NM_025193.4

p.Y12*

c.36C>G

2 papers

NM_025193.4

p.G19S

c.55G>A

1 paper

NM_025193.4

p.G22E

c.65G>A

1 paper

NM_025193.4

p.R27*

c.79C>T

1 paper

NM_025193.4

p.M1I

c.3G>A

1 paper

NM_025193.4

p.L29Q

c.86T>A

1 paper

NM_025193.4

p.M1T

c.2T>C

1 paper

NM_025193.4

p.M1insFs

c.2dupT

1 paper

NM_025193.4

p.R35W

c.103C>T