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_001024382.2

p.S167N

c.500G>A

Surrounding Variants

2 papers

NM_000190.4

p.S184delFs

c.552delT

2 papers

NM_000190.4

p.S184_A185insT

c.550_554ins3

1 paper

NM_000190.4

p.A185T

c.553G>A

2 papers

NM_000190.4

p.A185S

c.553G>T

1 paper

NM_000190.4

p.A185D

c.554C>A

2 papers

NM_000190.4

p.A185G

c.554C>G

1 paper

NM_000190.4

p.A185V

c.554C>T

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.E182D

c.546G>T

1 paper

NM_000190.4

p.E182A

c.545A>C

1 paper

NM_000190.4

p.E182G

c.545A>G