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.R195P

c.584G>C

Surrounding Variants

9 papers

NM_000190.4

p.R195H

c.584G>A

2 papers

NM_000190.4

p.R195L

c.584G>T

2 papers

NM_000190.4

p.R195S

c.583C>A

2 papers

NM_000190.4

p.R195G

c.583C>G

29 papers

NM_000190.4

p.R195C

c.583C>T

5 papers

NM_000190.4

p.Q194*

c.580C>T

1 paper

NM_000190.4

p.Q194fs

c.580_581fs

1 paper

NM_000190.4

p.G197_W198delFs

c.589_592del4

1 paper

NM_000190.4

p.G197D

c.590G>A

1 paper

NM_000190.4

p.L193_Q194Fs

c.578_582delinsAFs

1 paper

NM_000190.4

p.L193_R195Fs

c.578_583delinsAFs

4 papers

NM_000190.4

p.L193_R195delFs

c.579_583del5