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.K528R

c.1583A>G

Surrounding Variants

1 paper

NM_000414.4

p.G525V

c.1574G>T

1 paper

NM_000414.4

p.H532R

c.1595A>G

1 paper

NM_000414.4

p.T536I

c.1607C>T

4 papers

NM_000414.4

p.R543P

c.1628G>C

1 paper

NM_000414.4

p.R555I

c.1664G>T

1 paper

NM_000414.4

p.K557M

c.1670A>T

11 papers

NM_000414.4

p.I559V

c.1675A>G

NM_001199291.3

p.I584V

c.1750A>G

1 paper

NM_000414.4

p.K560N

c.1680G>C

1 paper

NM_000414.4

p.K560N

c.1680G>T

3 papers

NM_000414.4

p.G525V

c.1574G>T

2 papers

NM_000414.4

p.D517A

c.1550A>C

9 papers

NM_000414.4

p.I516T

c.1547T>C