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.A11_E12Splc

c.34-3C>A

Surrounding Variants

1 paper

NM_000190.4

p.A11_E12Splc

c.34-2A>G

1 paper

NM_000190.4

p.A11_E12Splc

c.34-1G>T

1 paper

NM_000190.4

p.E12fs

c.34_35fs

3 papers

NM_000190.4

p.E12A

c.35A>C

2 papers

NM_000190.4

p.N14insFs

c.41_42insA

2 papers

NM_000190.4

p.E13delFs

c.38delA

1 paper

NM_000190.4

p.S15T

c.44G>C

2 papers

NM_000190.4

p.K17insFs

c.50_51insA

1 paper

NM_000190.4

p.P16R

c.47C>G

1 paper

NM_000190.4

p.A11_E12Splc

c.34-21A>G

1 paper

NM_000190.4

p.K17E

c.49A>G

1 paper

NM_000190.4

p.K17T

c.50A>C