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

3 papers

NM_000190.4

p.Q29H

c.87G>C

Surrounding Variants

3 papers

NM_000190.4

p.Q29H

c.87G>T

1 paper

NM_000190.4

p.Q29P

c.86A>C

1 paper

NM_000190.4

p.Q29R

c.86A>G

5 papers

NM_000190.4

p.Q29L

c.86A>T

3 papers

NM_000190.4

p.Q29_L30Splc

c.87+1G>A

2 papers

NM_000190.4

p.Q29K

c.85C>A

1 paper

NM_000190.4

p.Q29E

c.85C>G

2 papers

NM_000190.4

p.Q29*

c.85C>T

9 papers

NM_000190.4

p.S28N

c.83G>A

1 paper

NM_000190.4

p.S28I

c.83G>T

1 paper

NM_000190.4

p.S28delFs

c.83delG

3 papers

NM_000190.4

p.Q29_L30Splc

c.87+5G>A