Varaico: Literature-Extracted Genetic Variants

ALAS2

240 papers

RefSeq Summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-lin...

Pfam Domains

Preseq_ALASaa 5–100UCSC5-aminolevulinate synthase presequence

Aminotran_1_2aa 189–536UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

5'-aminolevulinate synthase 2

HGNC Alias Symbol

ALAS-E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_000032.5

p.D190V

c.569A>T

Surrounding Variants

3 papers

NM_000032.5

p.V193F

c.577G>T

1 paper

NM_000032.5

p.V193I

c.577G>A

1 paper

NM_000032.5

p.A187V

c.560C>T

1 paper

NM_000032.5

p.V186A

c.557T>C

1 paper

NM_000032.5

p.E183D

c.549G>T

1 paper

NM_000032.5

p.E183D

c.549G>C

12 papers

NM_000032.5

p.Y199H

c.595T>C

1 paper

NM_000032.5

p.F181S

c.542T>C

1 paper

NM_000032.5

p.L200P

c.599T>C

1 paper

NM_000032.5

p.G201S

c.601G>A

1 paper

NM_000032.5

p.A178V

c.533C>T

7 papers

NM_000032.5

p.M202I

c.606G>T