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

1–12 of 132 variants

12 papers

NM_025193.4

p.T250A

c.748A>G

10 papers

NM_025193.4

p.T15_G16delFs

c.45_46delAG

6 papers

NM_025193.4

p.H45_L46del2

c.133_137del6

4 papers

NM_025193.4

p.G17fs

c.49_50fs

3 papers

NM_025193.4

p.V132F

c.394G>T

3 papers

NM_025193.4

p.T149I

c.446C>T

3 papers

NM_025193.4

p.W168*

c.503G>A

3 papers

NM_025193.4

p.W168*

c.504G>A

2 papers

NM_025193.4

p.G17fs

c.49_50fs

2 papers

NM_025193.4

p.G19S

c.55G>A

2 papers

NM_025193.4

p.E38*

c.112G>T

2 papers

NM_025193.4

p.N105delFs

c.314delA