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

5 papers

NM_000190.4

p.Q204H

c.612G>C

Surrounding Variants

9 papers

NM_000190.4

p.Q204H

c.612G>T

3 papers

NM_000190.4

p.Q204_I205Splc

c.612+1G>A

1 paper

NM_000190.4

p.Q204_I205Splc

c.612+1G>C

5 papers

NM_000190.4

p.Q204K

c.610C>A

10 papers

NM_000190.4

p.Q204*

c.610C>T

3 papers

NM_000190.4

p.Q204_I205Splc

c.612+4G>A

1 paper

NM_000190.4

p.G203E

c.608G>A

1 paper

NM_000190.4

p.G203R

c.607G>A

6 papers

NM_000190.4

p.V202V

c.606G>T

1 paper

NM_000190.4

p.G203_Q204insFs

c.609_610insG

3 papers

NM_000190.4

p.V202L

c.604G>C

3 papers

NM_000190.4

p.V202L

c.604G>T