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

2 papers

NM_001425057.1

p.T96I

c.287C>T

NM_000190.4

p.T102I

c.305C>T

Surrounding Variants

1 paper

NM_000190.4

p.V103fs

c.307_308fs

1 paper

NM_001024382.2

p.P84H

c.251C>A

1 paper

NM_000190.4

p.L100Q

c.299T>A

1 paper

NM_001425057.1

p.L94insFs

c.280_281insAT

2 papers

NM_000190.4

p.P105insFs

c.314_315insC

2 papers

NM_000190.4

p.P101_V103insFs

c.301_307dup7

1 paper

NM_000190.4

p.D99A

c.296A>C

9 papers

NM_000190.4

p.D99G

c.296A>G

1 paper

NM_000190.4

p.P105R

c.314C>G

2 papers

NM_000190.4

p.P105delFs

c.315delT

6 papers

NM_000190.4

p.D99N

c.295G>A

7 papers

NM_000190.4

p.D99H

c.295G>C