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

17 papers

NM_000032.5

p.Q548*

c.1642C>T

Surrounding Variants

1 paper

NM_000032.5

p.Q548H

c.1644G>T

1 paper

NM_000032.5

p.Q548H

c.1644G>C

1 paper

NM_000032.5

p.L547V

c.1639C>G

1 paper

NM_000032.5

p.D549insFs

c.1646_1647ins14

1 paper

NM_000032.5

p.V550fs

c.1648_1649fs

1 paper

NM_000032.5

p.P546S

c.1636C>T

4 papers

NM_000032.5

p.L545Q

c.1634T>A

1 paper

NM_000032.5

p.G544V

c.1631G>T

1 paper

NM_000032.5

p.G544delins

c.1630_1631delinsTA

1 paper

NM_000032.5

p.V552L

c.1654G>T

1 paper

NM_000032.5

p.V552L

c.1654G>C

2 papers

NM_000032.5

p.T541S

c.1622C>G