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.G111*

c.331G>T

Surrounding Variants

55 papers

NM_000190.4

p.G111R

c.331G>A

53 papers

NM_000190.4

p.G111R

c.331G>C

1 paper

NM_000190.4

p.I110M

c.330C>G

1 paper

NM_000190.4

p.G111E

c.332G>A

3 papers

NM_000190.4

p.G111A

c.332G>C

1 paper

NM_000190.4

p.A112T

c.334G>A

7 papers

NM_000190.4

p.A112P

c.334G>C

1 paper

NM_000190.4

p.A112S

c.334G>T

6 papers

NM_000190.4

p.A112D

c.335C>A

1 paper

NM_000190.4

p.A112G

c.335C>G

1 paper

NM_000190.4

p.A112V

c.335C>T

1 paper

NM_000190.4

p.A112A

c.336C>A