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

6 papers

NM_000414.4

p.W511R

c.1531T>C

Surrounding Variants

5 papers

NM_000414.4

p.W511R

c.1531T>A

2 papers

NM_000414.4

p.D510A

c.1529A>C

1 paper

NM_000414.4

p.D510N

c.1528G>A

1 paper

NM_001199291.3

p.N537S

c.1610A>G

4 papers

NM_000414.4

p.P513T

c.1537C>A

1 paper

NM_000414.4

p.L507_W511delFs

c.1520_1532del13

1 paper

NM_001199291.3

p.H540R

c.1619A>G

2 papers

NM_000414.4

p.R506H

c.1517G>A

2 papers

NM_000414.4

p.R506C

c.1516C>T

9 papers

NM_000414.4

p.I516T

c.1547T>C

2 papers

NM_000414.4

p.D517A

c.1550A>C

3 papers

NM_000414.4

p.G525V

c.1574G>T