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

2 papers

NM_000190.4

p.A152V

c.455C>T

Surrounding Variants

1 paper

NM_000190.4

p.A152D

c.455C>A

1 paper

NM_000190.4

p.A152G

c.455C>G

1 paper

NM_000190.4

p.A152T

c.454G>A

1 paper

NM_000190.4

p.A152P

c.454G>C

1 paper

NM_000190.4

p.A152S

c.454G>T

1 paper

NM_000190.4

p.A152del1

c.454_455delGCC

4 papers

NM_000190.4

p.Q153*

c.457C>T

1 paper

NM_000190.4

p.A151E

c.452C>A

1 paper

NM_000190.4

p.A151G

c.452C>G

1 paper

NM_000190.4

p.A151V

c.452C>T

1 paper

NM_000190.4

p.A151T

c.451G>A

1 paper

NM_000190.4

p.A151P

c.451G>C