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

9 papers

NM_000918.4

p.Y393C

c.1178A>G

Surrounding Variants

1 paper

NM_000918.4

p.Y393S

c.1178A>C

3 papers

NM_000918.4

p.Y393Splc

c.1178-1G>C

3 papers

NM_000918.4

p.C397S

c.1189T>A

3 papers

NM_000918.4

p.C397S

c.1190G>C

1 paper

NM_000918.4

p.G398C

c.1192G>T

4 papers

NM_000918.4

p.C400R

c.1198T>C

1 paper

NM_000918.4

p.C400S

c.1198T>A

1 paper

NM_000918.4

p.C400S

c.1199G>C

1 paper

NM_000918.4

p.C400W

c.1200C>G

1 paper

NM_000918.4

p.K401fs

c.1201_1202fs

1 paper

NM_000918.4

p.A404insFs

c.1211_1212insT

2 papers

NM_000918.4

p.P405L

c.1214C>T