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.P313Q

c.938C>A

Surrounding Variants

2 papers

NM_000918.4

p.P313S

c.937C>T

1 paper

NM_000918.4

p.C312S

c.935G>C

1 paper

NM_000918.4

p.C312S

c.934T>A

1 paper

NM_000918.4

p.V315A

c.944T>C

1 paper

NM_000918.4

p.R316C

c.946C>T

1 paper

NM_000918.4

p.K308R

c.923A>G

1 paper

NM_000918.4

p.T319A

c.955A>G

1 paper

NM_000918.4

p.V315_I318del4

c.943_953del12

1 paper

NM_000918.4

p.G306A

c.917G>C

2 papers

NM_000918.4

p.E321Q

c.961G>C

1 paper

NM_000918.4

p.E322K

c.964G>A

1 paper

NM_000918.4

p.E323*

c.967G>T