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.H120P

c.359A>C

Surrounding Variants

2 papers

NM_000414.4

p.I118I

c.354A>T

1 paper

NM_000414.4

p.I118T

c.353T>C

2 papers

NM_001199291.3

p.H148D

c.442C>G

NM_000414.4

p.H123D

c.367C>G

1 paper

NM_000414.4

p.H123Y

c.367C>T

1 paper

NM_000414.4

p.D117G

c.350A>G

4 papers

NM_000414.4

p.D117V

c.350A>T

1 paper

NM_000414.4

p.D117Splc

c.350-2A>T

1 paper

NM_000414.4

p.F128L

c.382T>C

1 paper

NM_000414.4

p.F128S

c.383T>C

1 paper

NM_000414.4

p.F128L

c.384C>A

1 paper

NM_000414.4

p.F128L

c.384C>G

1 paper

NM_000414.4

p.Q129*

c.385C>T