Varaico: Literature-Extracted Genetic Variants

HSD17B4

347 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA int...

Pfam Domains

adh_shortaa 1–75UCSCshort chain dehydrogenase

adh_shortaa 10–212UCSCshort chain dehydrogenase

MFE-2_hydrat-2_Naa 200–328UCSCMFE-2 hydratase 2 N-terminal domain

MaoC_dehydratasaa 343–464UCSCMaoC like domain

SCP2aa 491–594UCSCSCP-2 sterol transfer family

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 4

HGNC Alias Symbols

MFE-2; SDR8C1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_000414.4

p.Y568*

c.1704T>A

Surrounding Variants

9 papers

NM_000414.4

p.Y568*

c.1704T>G

1 paper

NM_000414.4

p.V567A

c.1700T>C

1 paper

NM_000414.4

p.P566T

c.1696C>A

1 paper

NM_000414.4

p.L573delFs

c.1717_1718delCT

2 papers

NM_000414.4

p.R562H

c.1685G>A

1 paper

NM_000414.4

p.R562L

c.1685G>T

1 paper

NM_001199292.2

p.M559V

c.1675A>G

1 paper

NM_000414.4

p.W578*

c.1734G>A

2 papers

NM_000414.4

p.I584V

c.1750A>G

1 paper

NM_000414.4

p.H585R

c.1754A>G

1 paper

NM_001199292.2

p.F568L

c.1704T>A

1 paper

NM_000414.4

p.Q587E

c.1759C>G