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

8 papers

NM_000190.4

p.L92P

c.275T>C

Surrounding Variants

1 paper

NM_000190.4

p.L92_T102delFs

c.276_304del29

1 paper

NM_000190.4

p.V93I

c.277G>A

15 papers

NM_000190.4

p.V93F

c.277G>T

1 paper

NM_000190.4

p.D91G

c.272A>G

6 papers

NM_000190.4

p.V93D

c.278T>A

1 paper

NM_000190.4

p.V93_V94insFs

c.279_280insAT

1 paper

NM_000190.4

p.V90V

c.270G>A

1 paper

NM_000190.4

p.V94insFs

c.280_281insAT

7 papers

NM_000190.4

p.V90G

c.269T>G

1 paper

NM_000190.4

p.H95P

c.284A>C

4 papers

NM_000190.4

p.E89Splc

c.267-1G>C

11 papers

NM_000190.4

p.S96F

c.287C>T