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

19 papers

NM_001199291.3

p.N482Y

c.1444A>T

NM_000414.4

p.N457Y

c.1369A>T

Surrounding Variants

3 papers

NM_000414.4

p.N457D

c.1369A>G

1 paper

NM_000414.4

p.V464L

c.1390G>C

1 paper

NM_000414.4

p.V464F

c.1390G>T

1 paper

NM_000414.4

p.G468S

c.1402G>A

1 paper

NM_000414.4

p.R473W

c.1417C>T

1 paper

NM_000414.4

p.S475L

c.1424C>T

1 paper

NM_000414.4

p.D476G

c.1427A>G

1 paper

NM_000414.4

p.V445Splc

c.1334-350C>T

1 paper

NM_000414.4

p.V445Splc

c.1334-556C>G

1 paper

NM_001199291.3

p.K504_V505Splc

c.1512+1866C>T

1 paper

NM_000414.4

p.V445Splc

c.1333+2T>C

1 paper

NM_000414.4

p.V445Splc

c.1333+1G>C