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.S75_E76del2

c.223_227del6

Surrounding Variants

1 paper

NM_000918.4

p.E76A

c.227A>C

1 paper

NM_000918.4

p.R78K

c.233G>A

1 paper

NM_000918.4

p.S75S

c.225C>A

2 papers

NM_000918.4

p.S75F

c.224C>T

1 paper

NM_000918.4

p.S75Y

c.224C>A

1 paper

NM_000918.4

p.L79fs

c.235_236fs

1 paper

NM_000918.4

p.L79insFs

c.236dupT

1 paper

NM_000918.4

p.L79delFs

c.235delA

1 paper

NM_000918.4

p.G74C

c.220G>T

1 paper

NM_000918.4

p.A80P

c.238G>C

3 papers

NM_000918.4

p.A80T

c.238G>A

1 paper

NM_000918.4

p.G74S

c.220G>A