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

1–12 of 345 variants

29 papers

NM_000414.4

p.G16S

c.46G>A

18 papers

NM_000414.4

p.N457Y

c.1369A>T

14 papers

NM_000414.4

p.Y217C

c.650A>G

13 papers

NM_000414.4

p.R106H

c.317G>A

10 papers

NM_000414.4

p.A34V

c.101C>T

10 papers

NM_000414.4

p.I559V

c.1675A>G

10 papers

NM_000414.4

p.Y568*

c.1704T>A

9 papers

NM_000414.4

p.I516T

c.1547T>C

9 papers

NM_000414.4

p.Y568*

c.1704T>G

6 papers

NM_000414.4

p.R132W

c.394C>T

6 papers

NM_000414.4

p.A196V

c.587C>T

6 papers

NM_000414.4

p.W511R

c.1531T>C