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

65 papers

NM_000190.4

p.R116W

c.346C>T

Surrounding Variants

1 paper

NM_000190.4

p.R116G

c.346C>G

13 papers

NM_000190.4

p.R116Q

c.347G>A

1 paper

NM_000190.4

p.R116P

c.347G>C

1 paper

NM_000190.4

p.R116L

c.347G>T

3 papers

NM_000190.4

p.K115Splc

c.345-1G>A

3 papers

NM_000190.4

p.K115Splc

c.345-1G>C

2 papers

NM_000190.4

p.R116R

c.348G>C

2 papers

NM_000190.4

p.K115Splc

c.345-2A>C

1 paper

NM_000190.4

p.K115Splc

c.345-2A>G

1 paper

NM_000190.4

p.E117Q

c.349G>C

1 paper

NM_000190.4

p.E117A

c.350A>C

1 paper

NM_000190.4

p.E117G

c.350A>G