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.I102M

c.306C>G

Surrounding Variants

1 paper

NM_000918.4

p.I102I

c.306C>T

1 paper

NM_000918.4

p.I102_K103insA

c.304_308ins3

1 paper

NM_000918.4

p.K103N

c.309G>T

1 paper

NM_000918.4

p.K103N

c.309G>C

1 paper

NM_000918.4

p.F104L

c.310T>C

1 paper

NM_000918.4

p.V96_T101del0

c.287_301del15

1 paper

NM_000918.4

p.V96_P100delFs

c.287_300del14

1 paper

NM_000918.4

p.F105S

c.314T>C

1 paper

NM_000918.4

p.R106W

c.316A>T

1 paper

NM_000918.4

p.Y99H

c.295T>C

1 paper

NM_000918.4

p.G98V

c.293G>T

1 paper

NM_000918.4

p.F105_R106delFs

c.315_318del4