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

3 papers

NM_025193.4

p.V132F

c.394G>T

Surrounding Variants

2 papers

NM_025193.4

p.G134_P135insFs

c.402_403insG

1 paper

NM_025193.4

p.M130_E131insA

c.388_392ins3

1 paper

NM_025193.4

p.G134E

c.401G>A

2 papers

NM_025193.4

p.P135fs

c.403_404fs

1 paper

NM_025193.4

p.L124P

c.371T>C

1 paper

NM_025193.4

p.L124R

c.371T>G

1 paper

NM_025193.4

p.R144T

c.431G>C

1 paper

NM_025193.4

p.C116R

c.346T>C

1 paper

NM_025193.4

p.R110Q

c.329G>A

1 paper

NM_025193.4

p.R144Splc

c.432-2A>G

1 paper

NM_025193.4

p.R144R

c.432G>A

1 paper

NM_025193.4

p.N146N

c.438C>T