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.E242A

c.725A>C

Surrounding Variants

1 paper

NM_000918.4

p.T241insFs

c.722_723insC

1 paper

NM_000918.4

p.T241N

c.722C>A

2 papers

NM_000918.4

p.Q243_T244Splc

c.729+1G>A

1 paper

NM_000918.4

p.E239A

c.716A>C

1 paper

NM_000918.4

p.V237I

c.709G>A

1 paper

NM_000918.4

p.L236P

c.707T>C

4 papers

NM_000918.4

p.P235S

c.703C>T

1 paper

NM_000918.4

p.Q233*

c.697C>T

2 papers

NM_000918.4

p.H231P

c.692A>C

2 papers

NM_000918.4

p.D227E

c.681C>A

1 paper

NM_000918.4

p.L226V

c.676C>G

1 paper

NM_000918.4

p.N224Y

c.670A>T