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

2 papers

NM_000190.4

p.R150K

c.449G>A

Surrounding Variants

1 paper

NM_000190.4

p.R150T

c.449G>C

1 paper

NM_000190.4

p.R150I

c.449G>T

3 papers

NM_000190.4

p.A151_A152del1

c.453_455delAGC

1 paper

NM_000190.4

p.R150S

c.450A>C

1 paper

NM_000190.4

p.R150G

c.448A>G

1 paper

NM_000190.4

p.R150*

c.448A>T

1 paper

NM_000190.4

p.R150S

c.450A>T

1 paper

NM_000190.4

p.A151T

c.451G>A

1 paper

NM_000190.4

p.A151P

c.451G>C

1 paper

NM_000190.4

p.A151S

c.451G>T

1 paper

NM_000190.4

p.A151E

c.452C>A

1 paper

NM_000190.4

p.A151G

c.452C>G