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

4 papers

NM_000918.4

p.L90M

c.268C>A

Surrounding Variants

1 paper

NM_000918.4

p.D89V

c.266A>T

1 paper

NM_000918.4

p.S88insFs

c.263_264insCC

1 paper

NM_000918.4

p.A91A

c.273C>A

1 paper

NM_000918.4

p.T85_E86del1

c.255_257delTCC

1 paper

NM_000918.4

p.Q92K

c.274C>A

1 paper

NM_000918.4

p.Q92R

c.275A>G

1 paper

NM_000918.4

p.Q92insFs

c.275dupA

1 paper

NM_000918.4

p.A91_Q93ins1

c.271_279dup9

1 paper

NM_000918.4

p.A91_Q93del0

c.271_279del9

1 paper

NM_000918.4

p.G95R

c.283G>C

1 paper

NM_000918.4

p.G95insFs

c.283_284insGT

2 papers

NM_000918.4

p.A84V

c.251C>T