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

63 papers

NM_000190.4

p.W198*

c.594G>A

Surrounding Variants

65 papers

NM_000190.4

p.W198*

c.593G>A

3 papers

NM_000190.4

p.H199insFs

c.597dupC

2 papers

NM_000190.4

p.W198fs

c.592_593fs

1 paper

NM_000190.4

p.H199Q

c.597C>A

1 paper

NM_000190.4

p.H199Q

c.597C>G

1 paper

NM_000190.4

p.G197_W198Fs

c.591_592delinsGFs

1 paper

NM_000190.4

p.N200H

c.598A>C

1 paper

NM_000190.4

p.N200D

c.598A>G

1 paper

NM_000190.4

p.N200Y

c.598A>T

2 papers

NM_000190.4

p.N200fs

c.598_599fs

1 paper

NM_000190.4

p.G197D

c.590G>A

1 paper

NM_000190.4

p.N200T

c.599A>C