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_000190.4

p.R19S

c.57A>T

Surrounding Variants

2 papers

NM_000190.4

p.R19S

c.57A>C

2 papers

NM_000190.4

p.R19K

c.56G>A

2 papers

NM_000190.4

p.R19T

c.56G>C

2 papers

NM_000190.4

p.R19I

c.56G>T

2 papers

NM_000190.4

p.R19G

c.55A>G

1 paper

NM_000190.4

p.I21F

c.61A>T

7 papers

NM_000190.4

p.M18delFs

c.53delT

1 paper

NM_000190.4

p.M18fs

c.52_53fs

2 papers

NM_000190.4

p.I21N

c.62T>A

1 paper

NM_000190.4

p.K17T

c.50A>C

1 paper

NM_000190.4

p.K17R

c.50A>G

1 paper

NM_000190.4

p.R22S

c.64C>A