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

67 papers

NM_000190.4

p.R173Q

c.518G>A

Surrounding Variants

2 papers

NM_000190.4

p.R173P

c.518G>C

1 paper

NM_000190.4

p.R173L

c.518G>T

4 papers

NM_000190.4

p.R173G

c.517C>G

106 papers

NM_000190.4

p.R173W

c.517C>T

1 paper

NM_000190.4

p.L174F

c.520C>T

1 paper

NM_000190.4

p.T172A

c.514A>G

2 papers

NM_000190.4

p.N171K

c.513C>A

2 papers

NM_000190.4

p.N171K

c.513C>G

1 paper

NM_000190.4

p.R175G

c.523C>G

7 papers

NM_000190.4

p.R175W

c.523C>T

2 papers

NM_000190.4

p.N171T

c.512A>C

2 papers

NM_000190.4

p.N171S

c.512A>G