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.D208Splc

c.623-1G>T

Surrounding Variants

1 paper

NM_000414.4

p.L209F

c.625C>T

1 paper

NM_000414.4

p.E211K

c.631G>A

1 paper

NM_000414.4

p.E211A

c.632A>C

14 papers

NM_000414.4

p.Y217C

c.650A>G

3 papers

NM_001199291.3

p.V243L

c.727G>C

NM_000414.4

p.V218L

c.652G>C

3 papers

NM_001199291.3

p.V243L

c.727G>T

NM_000414.4

p.V218L

c.652G>T

1 paper

NM_000414.4

p.L221F

c.661C>T

1 paper

NM_000414.4

p.H227R

c.680A>G

1 paper

NM_000414.4

p.E228K

c.682G>A

1 paper

NM_000414.4

p.E232K

c.694G>A

3 papers

NM_000414.4

p.N233_G235del3

c.697_704del9

1 paper

NM_000414.4

p.G235C

c.703G>T