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.G9E

c.26G>A

Surrounding Variants

1 paper

NM_000414.4

p.V11insFs

c.31dupG

1 paper

NM_000414.4

p.F7L

c.21C>A

2 papers

NM_000414.4

p.F7L

c.21C>G

1 paper

NM_000414.4

p.V11fs

c.31_32fs

1 paper

NM_000414.4

p.V11V

c.33G>A

1 paper

NM_000414.4

p.F7L

c.19T>C

1 paper

NM_000414.4

p.R6K

c.17G>A

2 papers

NM_000414.4

p.L5L

c.15G>A

1 paper

NM_000414.4

p.L5R

c.14T>G

4 papers

NM_000414.4

p.P4R

c.11C>G

3 papers

NM_000414.4

p.T15A

c.43A>G

1 paper

NM_000414.4

p.T15_A19del0

c.44_55del12