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.R164T

c.491G>C

Surrounding Variants

3 papers

NM_000190.4

p.R164K

c.491G>A

1 paper

NM_000190.4

p.R164M

c.491G>T

1 paper

NM_000190.4

p.R164insFs

c.490_491ins4

3 papers

NM_000190.4

p.R164G

c.490A>G

1 paper

NM_000190.4

p.R164W

c.490A>T

3 papers

NM_000190.4

p.R164S

c.492G>C

3 papers

NM_000190.4

p.R164S

c.492G>T

1 paper

NM_000190.4

p.F163_R164insFs

c.489_490ins4

1 paper

NM_000190.4

p.E162D

c.486G>C

1 paper

NM_000190.4

p.E162D

c.486G>T

1 paper

NM_000190.4

p.E162A

c.485A>C

1 paper

NM_000190.4

p.E162G

c.485A>G