Varaico: Literature-Extracted Genetic Variants

P4HB

691 papers

RefSeq Summary

This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of tw...

Pfam Domains

Thioredoxinaa 25–131UCSCThioredoxin

Thioredoxin_6aa 161–345UCSCThioredoxin-like domain

Thioredoxinaa 368–472UCSCThioredoxin

Gene Aliases

HGNC Name

prolyl 4-hydroxylase subunit beta

HGNC Previous Symbols

PO4DB; ERBA2L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000918.4

p.A17A

c.51C>A

Surrounding Variants

1 paper

NM_000918.4

p.D18N

c.52G>A

1 paper

NM_000918.4

p.A17D

c.50C>A

4 papers

NM_000918.4

p.D18V

c.53A>T

1 paper

NM_000918.4

p.D18G

c.53A>G

3 papers

NM_000918.4

p.R16C

c.46C>T

7 papers

NM_000918.4

p.A19D

c.56C>A

1 paper

NM_000918.4

p.V15E

c.44T>A

2 papers

NM_000918.4

p.P20T

c.58C>A

1 paper

NM_000918.4

p.E21Q

c.61G>C

1 paper

NM_000918.4

p.E21K

c.61G>A

1 paper

NM_000918.4

p.E21delFs

c.62delT

2 papers

NM_000918.4

p.A13A

c.39C>A