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

12 papers

NM_025193.4

p.T250A

c.748A>G

Surrounding Variants

2 papers

NM_025193.4

p.R248P

c.743G>C

1 paper

NM_025193.4

p.Y257C

c.770A>G

1 paper

NM_025193.4

p.D261N

c.781G>A

1 paper

NM_025193.4

p.P264T

c.790C>A

1 paper

NM_025193.4

p.N233S

c.698A>G

1 paper

NM_025193.4

p.S267N

c.800G>A

2 papers

NM_025193.4

p.E269_F271delFs

c.805_811del7

1 paper

NM_025193.4

p.E269fs

c.805_806fs

1 paper

NM_025193.4

p.E269fs

c.805_806fs

1 paper

NM_025193.4

p.G280R

c.838G>A

1 paper

NM_025193.4

p.G280R

c.838G>C

1 paper

NM_025193.4

p.G280V

c.839G>T