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.W168*

c.504G>A

Surrounding Variants

3 papers

NM_025193.4

p.W168*

c.503G>A

1 paper

NM_025193.4

p.E167K

c.499G>A

2 papers

NM_025193.4

p.N174S

c.521A>G

2 papers

NM_025193.4

p.S162R

c.486C>A

2 papers

NM_025193.4

p.S162R

c.486C>G

2 papers

NM_025193.4

p.S162R

c.484A>C

1 paper

NM_025193.4

p.S162delins

c.484_485delinsCC

1 paper

NM_025193.4

p.S162del1

c.484_485delAGC

1 paper

NM_025193.4

p.K177_V178Splc

c.531+1G>C

1 paper

NM_025193.4

p.Y159fs

c.475_476fs

1 paper

NM_025193.4

p.P158delFs

c.474delC

1 paper

NM_025193.4

p.Y151*

c.453C>A