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

2 papers

NM_000918.4

p.E431K

c.1291G>A

Surrounding Variants

1 paper

NM_000918.4

p.E431Q

c.1291G>C

1 paper

NM_000918.4

p.V432M

c.1294G>A

1 paper

NM_000918.4

p.E433E

c.1299G>A

1 paper

NM_000918.4

p.M425I

c.1275G>A

2 papers

NM_000918.4

p.V421I

c.1261G>A

1 paper

NM_000918.4

p.P441_T442insC

c.1321_1325ins3

1 paper

NM_000918.4

p.D416E

c.1248C>G

1 paper

NM_000918.4

p.D416E

c.1248C>A

1 paper

NM_000918.4

p.D416A

c.1247A>C

2 papers

NM_000918.4

p.F446I

c.1336T>A

1 paper

NM_000918.4

p.Y414C

c.1241A>G

1 paper

NM_000918.4

p.R452R

c.1356G>A