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

9 papers

NM_000190.4

p.P119L

c.356C>T

Surrounding Variants

3 papers

NM_000190.4

p.N118K

c.354C>A

3 papers

NM_000190.4

p.H120N

c.358C>A

3 papers

NM_000190.4

p.N118K

c.354C>G

2 papers

NM_000190.4

p.H120Y

c.358C>T

2 papers

NM_000190.4

p.H120_D121del1

c.359_361delATG

2 papers

NM_000190.4

p.N118T

c.353A>C

1 paper

NM_000190.4

p.H120P

c.359A>C

2 papers

NM_000190.4

p.N118S

c.353A>G

1 paper

NM_000190.4

p.N118I

c.353A>T

1 paper

NM_000190.4

p.N118H

c.352A>C

1 paper

NM_000190.4

p.N118D

c.352A>G

1 paper

NM_000190.4

p.E117D

c.351A>C