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.K140N

c.420A>T

Surrounding Variants

1 paper

NM_000414.4

p.K140N

c.420A>C

1 paper

NM_000414.4

p.Q141delFs

c.422_423delAG

1 paper

NM_000414.4

p.Y143S

c.428A>C

1 paper

NM_000414.4

p.G144*

c.430G>T

1 paper

NM_001199291.3

p.E161G

c.482A>G

1 paper

NM_000414.4

p.R132R

c.394C>A

6 papers

NM_000414.4

p.R132W

c.394C>T

1 paper

NM_000414.4

p.T131K

c.392C>A

1 paper

NM_000414.4

p.Q129*

c.385C>T

1 paper

NM_000414.4

p.F128L

c.384C>A

1 paper

NM_000414.4

p.F128L

c.384C>G

1 paper

NM_000414.4

p.F128S

c.383T>C