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.S107T

c.319T>A

Surrounding Variants

15 papers

NM_001199291.3

p.R131H

c.392G>A

NM_000414.4

p.R106H

c.317G>A

4 papers

NM_000414.4

p.R106P

c.317G>C

2 papers

NM_000414.4

p.R104K

c.311G>A

3 papers

NM_000414.4

p.R104M

c.311G>T

1 paper

NM_000414.4

p.L103_R104insFs

c.309_310insT

2 papers

NM_000414.4

p.D115V

c.344A>T

1 paper

NM_000414.4

p.D117G

c.350A>G

4 papers

NM_000414.4

p.D117V

c.350A>T

2 papers

NM_000414.4

p.G101Splc

c.302+1G>C

1 paper

NM_000414.4

p.A100G

c.299C>G

3 papers

NM_000414.4

p.A100S

c.298G>T

NM_001199292.2

p.A82S

c.244G>T

1 paper

NM_000414.4

p.N99insFs

c.296_297insA