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.Y43C

c.128A>G

Surrounding Variants

1 paper

NM_000918.4

p.Y43F

c.128A>T

1 paper

NM_000918.4

p.Y43N

c.127T>A

1 paper

NM_000918.4

p.K42E

c.124A>G

1 paper

NM_000918.4

p.L45M

c.133C>A

1 paper

NM_000918.4

p.L45Q

c.134T>A

3 papers

NM_000918.4

p.H41P

c.122A>C

1 paper

NM_000918.4

p.E36_A40del0

c.107_118del12

1 paper

NM_000918.4

p.A39G

c.116C>G

1 paper

NM_000918.4

p.E47A

c.140A>C

1 paper

NM_000918.4

p.L38R

c.113T>G

3 papers

NM_000918.4

p.Y49Splc

c.145+1G>C

2 papers

NM_000918.4

p.A35E

c.104C>A