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

1 paper

NM_000032.5

p.P176L

c.527C>T

Surrounding Variants

1 paper

NM_000032.5

p.Y175_P176insFs

c.525_526ins7

1 paper

NM_000032.5

p.A174_P176delFs

c.522_528del7

1 paper

NM_000032.5

p.Y175_P176del0

c.523_528del6

1 paper

NM_000032.5

p.Y175fs

c.523_524fs

1 paper

NM_000032.5

p.A178S

c.532G>T

1 paper

NM_000032.5

p.A178V

c.533C>T

1 paper

NM_000032.5

p.A174T

c.520G>A

8 papers

NM_000032.5

p.A172T

c.514G>A

1 paper

NM_000032.5

p.F181S

c.542T>C

11 papers

NM_000032.5

p.R170L

c.509G>T

12 papers

NM_000032.5

p.R170H

c.509G>A

9 papers

NM_000032.5

p.R170C

c.508C>T