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.R149G

c.445C>G

Surrounding Variants

36 papers

NM_000190.4

p.R149*

c.445C>T

23 papers

NM_000190.4

p.R149Q

c.446G>A

3 papers

NM_000190.4

p.R149P

c.446G>C

18 papers

NM_000190.4

p.R149L

c.446G>T

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.L148L

c.442C>T

2 papers

NM_000190.4

p.R150K

c.449G>A

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