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

7 papers

NM_001199291.3

p.A221V

c.662C>T

NM_000414.4

p.A196V

c.587C>T

Surrounding Variants

1 paper

NM_000414.4

p.G197_R199insFs

c.590_597dup8

1 paper

NM_000414.4

p.S198S

c.594A>T

1 paper

NM_000414.4

p.M200fs

c.598_599fs

1 paper

NM_000414.4

p.I192V

c.574A>G

1 paper

NM_000414.4

p.T201P

c.601A>C

3 papers

NM_000414.4

p.T201A

c.601A>G

1 paper

NM_000414.4

p.Q202*

c.604C>T

1 paper

NM_000414.4

p.H188Q

c.564T>A

1 paper

NM_000414.4

p.H188Y

c.562C>T

1 paper

NM_000414.4

p.I187F

c.559A>T

1 paper

NM_000414.4

p.N186_I187del2

c.556_560del6

1 paper

NM_000414.4

p.E207K

c.619G>A