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.K157K

c.471G>A

Surrounding Variants

1 paper

NM_000190.4

p.K157N

c.471G>C

1 paper

NM_000190.4

p.K157N

c.471G>T

1 paper

NM_000190.4

p.F158_P159insA

c.472_476ins3

3 papers

NM_000190.4

p.K157*

c.469A>T

1 paper

NM_000190.4

p.K157fs

c.469_470fs

1 paper

NM_000190.4

p.R156S

c.468A>C

1 paper

NM_000190.4

p.R156S

c.468A>T

1 paper

NM_000190.4

p.P159S

c.475C>T

3 papers

NM_000190.4

p.R156K

c.467G>A

1 paper

NM_000190.4

p.R156T

c.467G>C

3 papers

NM_000190.4

p.K157insFs

c.470_471insA

1 paper

NM_000190.4

p.R156I

c.467G>T