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.Y344C

c.1031A>G

Surrounding Variants

1 paper

NM_025193.4

p.E345*

c.1033G>T

1 paper

NM_025193.4

p.L347delFs

c.1039_1040delCT

1 paper

NM_025193.4

p.L347fs

c.1039_1040fs

2 papers

NM_025193.4

p.L347delFs

c.1040delT

2 papers

NM_025193.4

p.L347fs

c.1039_1040fs

1 paper

NM_025193.4

p.R340H

c.1019G>A

1 paper

NM_025193.4

p.R354P

c.1061G>C

2 papers

NM_025193.4

p.R356R

c.1068T>C

1 paper

NM_025193.4

p.T330del1

c.988_990delACC

1 paper

NM_025193.4

p.W360*

c.1079G>A

1 paper

NM_025193.4

p.W360*

c.1080G>A

1 paper

NM_025193.4

p.A327T

c.979G>A