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.M443L

c.1327A>C

Surrounding Variants

1 paper

NM_000414.4

p.M443L

c.1327A>T

2 papers

NM_000414.4

p.D444H

c.1330G>C

1 paper

NM_000414.4

p.V445Splc

c.1333+1G>C

1 paper

NM_000414.4

p.V445Splc

c.1333+2T>C

1 paper

NM_000414.4

p.G438S

c.1312G>A

1 paper

NM_000414.4

p.V432G

c.1295T>G

1 paper

NM_000414.4

p.A430V

c.1289C>T

1 paper

NM_000414.4

p.A427V

c.1280C>T

1 paper

NM_000414.4

p.A427T

c.1279G>A

1 paper

NM_000414.4

p.E426D

c.1278A>C

1 paper

NM_000414.4

p.E426D

c.1278A>T

1 paper

NM_000414.4

p.C425R

c.1273T>C