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.I166_R167Splc

c.499-1G>A

Surrounding Variants

7 papers

NM_000190.4

p.I166_R167Splc

c.499-1G>T

1 paper

NM_000190.4

p.R167G

c.499C>G

59 papers

NM_000190.4

p.R167W

c.499C>T

1 paper

NM_000190.4

p.R167delFs

c.500delG

59 papers

NM_000190.4

p.R167Q

c.500G>A

1 paper

NM_000190.4

p.R167P

c.500G>C

1 paper

NM_000190.4

p.R167L

c.500G>T

2 papers

NM_000190.4

p.G168R

c.502G>A

2 papers

NM_000190.4

p.G168R

c.502G>C

3 papers

NM_000190.4

p.G168*

c.502G>T

1 paper

NM_000190.4

p.G168E

c.503G>A

1 paper

NM_000190.4

p.N169insFs

c.506_507insA