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

8 papers

NM_000032.5

p.E242K

c.724G>A

Surrounding Variants

1 paper

NM_000032.5

p.L243Q

c.728T>A

1 paper

NM_000032.5

p.H236_E240delFs

c.706_719del14

1 paper

NM_000032.5

p.L243_A244insFs

c.729_730insTT

1 paper

NM_000032.5

p.H236_E240Fs

c.706_719delinsGFs

1 paper

NM_000032.5

p.H236L

c.707A>T

1 paper

NM_000032.5

p.A223_S233del0

c.669_698del30

6 papers

NM_000032.5

p.S251P

c.751T>C

1 paper

NM_000032.5

p.T232P

c.694A>C

1 paper

NM_000032.5

p.L253_L254delFs

c.757_761del5

1 paper

NM_000032.5

p.A223_N228delFs

c.669_682del14

1 paper

NM_000032.5

p.S256A

c.766T>G

1 paper

NM_000032.5

p.R227H

c.680G>A