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.N169I

c.506A>T

Surrounding Variants

2 papers

NM_000190.4

p.N169T

c.506A>C

2 papers

NM_000190.4

p.N169S

c.506A>G

2 papers

NM_000190.4

p.N169H

c.505A>C

1 paper

NM_000190.4

p.N169D

c.505A>G

2 papers

NM_000190.4

p.N169Y

c.505A>T

1 paper

NM_000190.4

p.N169fs

c.505_506fs

2 papers

NM_000190.4

p.N169K

c.507C>A

2 papers

NM_000190.4

p.N169K

c.507C>G

1 paper

NM_000190.4

p.G168E

c.503G>A

1 paper

NM_000190.4

p.N169insFs

c.506_507insA

1 paper

NM_000190.4

p.G168insFs

c.503_504insT

1 paper

NM_000190.4

p.G168V

c.503G>T