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.K115Q

c.343A>C

Surrounding Variants

3 papers

NM_000190.4

p.C114*

c.342C>A

3 papers

NM_000190.4

p.K115Splc

c.344+1G>A

2 papers

NM_000190.4

p.K115Splc

c.344+1G>C

2 papers

NM_000190.4

p.C114insFs

c.341_342insT

1 paper

NM_000190.4

p.K115Splc

c.344+1G>T

2 papers

NM_000190.4

p.K115Splc

c.344+2T>A

1 paper

NM_000190.4

p.K115Splc

c.344+3A>G

4 papers

NM_000190.4

p.C114insFs

c.340_341insT

1 paper

NM_000190.4

p.I113N

c.338T>A

5 papers

NM_000190.4

p.I113T

c.338T>C

1 paper

NM_000190.4

p.A112A

c.336C>A

6 papers

NM_000190.4

p.A112D

c.335C>A