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

2 papers

NM_000414.4

p.L21F

c.63G>T

Surrounding Variants

2 papers

NM_000414.4

p.L21F

c.63G>C

1 paper

NM_000414.4

p.G22S

c.64G>A

1 paper

NM_000414.4

p.G22_R23ins2

c.66_67ins6

1 paper

NM_000414.4

p.R23*

c.67C>T

1 paper

NM_000414.4

p.R23P

c.68G>C

1 paper

NM_000414.4

p.A24V

c.71C>T

1 paper

NM_000414.4

p.A30delFs

c.88delG

1 paper

NM_000414.4

p.A30P

c.88G>C

10 papers

NM_000414.4

p.A34V

c.101C>T

1 paper

NM_000414.4

p.V37I

c.109G>A

1 paper

NM_000414.4

p.G20Splc

c.59-178G>A

1 paper

NM_000414.4

p.G20Splc

c.59-551C>T