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.P138S

c.412C>T

Surrounding Variants

2 papers

NM_000190.4

p.L137P

c.410T>C

2 papers

NM_000190.4

p.E139K

c.415G>A

2 papers

NM_000190.4

p.E139insFs

c.416_417insCA

3 papers

NM_000190.4

p.E139*

c.415G>T

1 paper

NM_000190.4

p.E139V

c.416A>T

1 paper

NM_000190.4

p.E139_K140insFs

c.417_418insCA

1 paper

NM_000190.4

p.K140R

c.419A>G

1 paper

NM_000190.4

p.S141delFs

c.422delG

2 papers

NM_000190.4

p.E135_T136delFs

c.405_406delAA

3 papers

NM_000190.4

p.S141N

c.422G>A

7 papers

NM_000190.4

p.S141Splc

c.422+1G>A

1 paper

NM_000190.4

p.S141Splc

c.422+1G>C