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.M202_S203delFs

c.606_607delTC

Surrounding Variants

4 papers

NM_000032.5

p.R204*

c.610C>T

11 papers

NM_000032.5

p.R204Q

c.611G>A

7 papers

NM_000032.5

p.M202I

c.606G>T

7 papers

NM_000032.5

p.M202I

c.606G>C

7 papers

NM_000032.5

p.M202I

c.606G>A

1 paper

NM_000032.5

p.G201S

c.601G>A

1 paper

NM_000032.5

p.L200P

c.599T>C

5 papers

NM_000032.5

p.V208F

c.622G>T

1 paper

NM_000032.5

p.V208I

c.622G>A

12 papers

NM_000032.5

p.Y199H

c.595T>C

1 paper

NM_000032.5

p.V208V

c.624C>T

1 paper

NM_000032.5

p.L209*

c.626T>A