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.L193L

c.577C>T

Surrounding Variants

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

2 papers

NM_000190.4

p.G192D

c.575G>A

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.G192S

c.574G>A

1 paper

NM_000190.4

p.A191D

c.572C>A

1 paper

NM_000190.4

p.A191G

c.572C>G

1 paper

NM_000190.4

p.A191V

c.572C>T

2 papers

NM_000190.4

p.R195S

c.583C>A

2 papers

NM_000190.4

p.R195G

c.583C>G