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

1 paper

NM_000414.4

p.S153L

c.458C>T

Surrounding Variants

1 paper

NM_000414.4

p.S153S

c.459A>G

1 paper

NM_000414.4

p.A152V

c.455C>T

1 paper

NM_000414.4

p.S151T

c.451T>A

1 paper

NM_000414.4

p.Y156F

c.467A>T

4 papers

NM_000414.4

p.N158D

c.472A>G

2 papers

NM_000414.4

p.N158I

c.473A>T

1 paper

NM_000414.4

p.G160R

c.478G>C

1 paper

NM_000414.4

p.Q161R

c.482A>G

1 paper

NM_000414.4

p.Q161H

c.483G>C

1 paper

NM_000414.4

p.Q161H

c.483G>T

2 papers

NM_000414.4

p.Y164F

c.491A>T

1 paper

NM_000414.4

p.G170S

c.508G>A