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.E179Q

c.535G>C

Surrounding Variants

2 papers

NM_000190.4

p.E179K

c.535G>A

1 paper

NM_000190.4

p.E179*

c.535G>T

1 paper

NM_000190.4

p.E179A

c.536A>C

1 paper

NM_000190.4

p.E179G

c.536A>G

1 paper

NM_000190.4

p.E179V

c.536A>T

1 paper

NM_000190.4

p.E179D

c.537G>C

1 paper

NM_000190.4

p.E179D

c.537G>T

1 paper

NM_000190.4

p.Q180_Q181delFs

c.538_541del4

1 paper

NM_000190.4

p.Q180*

c.538C>T

20 papers

NM_000190.4

p.D178N

c.532G>A

2 papers

NM_000190.4

p.D178H

c.532G>C

1 paper

NM_000190.4

p.L177L

c.531G>C