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.K65R

c.194A>G

Surrounding Variants

1 paper

NM_000918.4

p.A64T

c.190G>A

1 paper

NM_000918.4

p.Y63*

c.189T>G

1 paper

NM_000918.4

p.K69fs

c.205_206fs

1 paper

NM_000918.4

p.P61H

c.182C>A

1 paper

NM_000918.4

p.K69delFs

c.206delT

1 paper

NM_000918.4

p.L59L

c.175C>T

2 papers

NM_000918.4

p.L59V

c.175C>G

1 paper

NM_000918.4

p.L59M

c.175C>A

1 paper

NM_000918.4

p.G68_A72delFs

c.204_214del11

1 paper

NM_000918.4

p.A58P

c.172G>C

1 paper

NM_000918.4

p.A72insFs

c.216dupA

1 paper

NM_000918.4

p.K57M

c.170A>T