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

3 papers

NM_000190.4

p.R22H

c.65G>A

Surrounding Variants

1 paper

NM_000190.4

p.R22P

c.65G>C

1 paper

NM_000190.4

p.R22L

c.65G>T

1 paper

NM_000190.4

p.R22S

c.64C>A

4 papers

NM_000190.4

p.R22R

c.66C>G

1 paper

NM_000190.4

p.R22G

c.64C>G

15 papers

NM_000190.4

p.R22C

c.64C>T

1 paper

NM_000190.4

p.V23L

c.67G>C

1 paper

NM_000190.4

p.V23L

c.67G>T

2 papers

NM_000190.4

p.I21N

c.62T>A

1 paper

NM_000190.4

p.I21F

c.61A>T

12 papers

NM_000190.4

p.G24S

c.70G>A

7 papers

NM_000190.4

p.G24D

c.71G>A