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_000190.4

p.R26_K27insFs

c.78_79insC

Surrounding Variants

52 papers

NM_001024382.2

p.R9H

c.26G>A

NM_000190.4

p.R26H

c.77G>A

2 papers

NM_000190.4

p.R26P

c.77G>C

6 papers

NM_000190.4

p.R26L

c.77G>T

1 paper

NM_000190.4

p.R26S

c.76C>A

1 paper

NM_000190.4

p.R26G

c.76C>G

51 papers

NM_000190.4

p.R26C

c.76C>T

1 paper

NM_000190.4

p.K27*

c.79A>T

2 papers

NM_000190.4

p.K27M

c.80A>T

1 paper

NM_000190.4

p.S28delFs

c.83delG

9 papers

NM_000190.4

p.S28N

c.83G>A

7 papers

NM_000190.4

p.G24D

c.71G>A

1 paper

NM_000190.4

p.G24A

c.71G>C