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

3 papers

NM_000190.4

p.P127A

c.379C>G

Surrounding Variants

4 papers

NM_000190.4

p.P127Q

c.380C>A

1 paper

NM_000190.4

p.K128delFs

c.384delA

2 papers

NM_000190.4

p.K128*

c.382A>T

1 paper

NM_000190.4

p.K128fs

c.382_383fs

1 paper

NM_000190.4

p.H126_K128delFs

c.378_382del5

1 paper

NM_000190.4

p.K128_F129insFs

c.384_385insT

1 paper

NM_000190.4

p.F125Y

c.374T>A

8 papers

NM_000190.4

p.V124D

c.371T>A

3 papers

NM_000190.4

p.V123D

c.368T>A

5 papers

NM_000190.4

p.A122D

c.365C>A

4 papers

NM_000190.4

p.A122G

c.365C>G

1 paper

NM_000190.4

p.A122V

c.365C>T