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

1–12 of 1243 variants

106 papers

NM_000190.4

p.R173W

c.517C>T

67 papers

NM_000190.4

p.R173Q

c.518G>A

65 papers

NM_000190.4

p.R116W

c.346C>T

65 papers

NM_000190.4

p.W198*

c.593G>A

63 papers

NM_000190.4

p.W198*

c.594G>A

59 papers

NM_000190.4

p.R167W

c.499C>T

59 papers

NM_000190.4

p.R167Q

c.500G>A

55 papers

NM_000190.4

p.G111R

c.331G>A

53 papers

NM_000190.4

p.G111R

c.331G>C

52 papers

NM_000190.4

p.R26H

c.77G>A

51 papers

NM_000190.4

p.R26C

c.76C>T

36 papers

NM_000190.4

p.R149*

c.445C>T