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.M1I

c.3G>T

Surrounding Variants

2 papers

NM_000918.4

p.M1I

c.3G>C

3 papers

NM_000918.4

p.M1I

c.3G>A

2 papers

NM_000918.4

p.M1T

c.2T>C

1 paper

NM_000918.4

p.L2V

c.4C>G

1 paper

NM_000918.4

p.M1V

c.1A>G

1 paper

NM_000918.4

p.R4H

c.11G>A

1 paper

NM_000918.4

p.A5V

c.14C>T

1 paper

NM_000918.4

p.L7V

c.19C>G

1 paper

NM_000918.4

p.C8*

c.24C>A

1 paper

NM_000918.4

p.A10A

c.30C>A

1 paper

NM_000918.4

p.A12S

c.34G>T

1 paper

NM_000918.4

p.A12D

c.35C>A