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

18 papers

NM_000032.5

p.R227C

c.679C>T

Surrounding Variants

1 paper

NM_000032.5

p.R227H

c.680G>A

1 paper

NM_000032.5

p.A223_N228delFs

c.669_682del14

5 papers

NM_000032.5

p.G225S

c.673G>A

1 paper

NM_000032.5

p.G224C

c.670G>T

1 paper

NM_000032.5

p.G224R

c.670G>C

1 paper

NM_000032.5

p.G222E

c.665G>A

1 paper

NM_000032.5

p.T232P

c.694A>C

1 paper

NM_000032.5

p.A221A

c.663T>A

1 paper

NM_000032.5

p.A223_S233del0

c.669_698del30

7 papers

NM_000032.5

p.R218H

c.653G>A

1 paper

NM_000032.5

p.R218C

c.652C>T

1 paper

NM_000032.5

p.H236L

c.707A>T