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.F34L

c.102C>A

Surrounding Variants

1 paper

NM_000918.4

p.F34_A35insFs

c.102_103insA

1 paper

NM_000918.4

p.E22_N33del12

c.64_98del36

2 papers

NM_000918.4

p.A35E

c.104C>A

1 paper

NM_000918.4

p.N33K

c.99C>A

1 paper

NM_000918.4

p.K31insFs

c.93dupA

1 paper

NM_000918.4

p.S32G

c.94A>G

1 paper

NM_000918.4

p.K31R

c.92A>G

1 paper

NM_000918.4

p.L38R

c.113T>G

1 paper

NM_000918.4

p.R30_K31insFs

c.90_91insG

1 paper

NM_000918.4

p.A39G

c.116C>G

1 paper

NM_000918.4

p.E36_A40del0

c.107_118del12

1 paper

NM_000918.4

p.V28G

c.83T>G