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

1–12 of 357 variants

9 papers

NM_000918.4

p.Y393C

c.1178A>G

7 papers

NM_000918.4

p.A19D

c.56C>A

6 papers

NM_000918.4

p.D292N

c.874G>A

5 papers

NM_000918.4

p.V82A

c.245T>C

4 papers

NM_000918.4

p.M1I

c.3G>T

4 papers

NM_000918.4

p.D18V

c.53A>T

4 papers

NM_000918.4

p.K65R

c.194A>G

4 papers

NM_000918.4

p.L90M

c.268C>A

4 papers

NM_000918.4

p.P235S

c.703C>T

4 papers

NM_000918.4

p.R300H

c.899G>A

4 papers

NM_000918.4

p.C400R

c.1198T>C

3 papers

NM_000918.4

p.M1I

c.3G>A