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

6 papers

NM_000190.4

p.T145I

c.434C>T

Surrounding Variants

1 paper

NM_000190.4

p.T145N

c.434C>A

1 paper

NM_000190.4

p.T145P

c.433A>C

4 papers

NM_000190.4

p.S146_L148delFs

c.437_443del7

4 papers

NM_000190.4

p.S147P

c.439T>C

2 papers

NM_000190.4

p.S147fs

c.439_440fs

1 paper

NM_000190.4

p.V143M

c.427G>A

1 paper

NM_000190.4

p.L148L

c.442C>T

1 paper

NM_000190.4

p.V142M

c.424G>A

1 paper

NM_000190.4

p.R149G

c.445C>G

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.S141Splc

c.423-1G>A