Varaico: Literature-Extracted Genetic Variants

HMBS

681 papers

RefSeq Summary

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four...

Pfam Domains

Porphobil_deamaa 1–178UCSCPorphobilinogen deaminase, dipyromethane cofactor binding domain

Porphobil_deamCaa 189–267UCSCPorphobilinogen deaminase, C-terminal domain

Gene Aliases

HGNC Name

hydroxymethylbilane synthase

HGNC Previous Symbols

PBGD; UPS; PORC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000190.4

p.E182D

c.546G>T

Surrounding Variants

1 paper

NM_000190.4

p.E182D

c.546G>C

1 paper

NM_000190.4

p.F183insFs

c.548dupT

1 paper

NM_000190.4

p.E182A

c.545A>C

1 paper

NM_000190.4

p.E182G

c.545A>G

1 paper

NM_000190.4

p.E182V

c.545A>T

1 paper

NM_000190.4

p.E182K

c.544G>A

1 paper

NM_000190.4

p.E182*

c.544G>T

1 paper

NM_000190.4

p.Q181H

c.543G>C

1 paper

NM_000190.4

p.Q181H

c.543G>T

2 papers

NM_000190.4

p.S184_A185insT

c.550_554ins3

8 papers

NM_000190.4

p.Q181*

c.541C>T

1 paper

NM_001024382.2

p.S167N

c.500G>A