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.Q581H

c.1743G>T

Surrounding Variants

1 paper

NM_000032.5

p.Q581H

c.1743G>C

1 paper

NM_000032.5

p.Q581fs

c.1741_1742fs

3 papers

NM_000032.5

p.Q581*

c.1741C>T

5 papers

NM_000032.5

p.M578delFs

c.1734delC

1 paper

NM_000032.5

p.Q581_T585delFs

c.1743_1753del11

1 paper

NM_000032.5

p.M578L

c.1732A>T

1 paper

NM_000032.5

p.M578V

c.1732A>G

1 paper

NM_000032.5

p.M578L

c.1732A>C

12 papers

NM_000032.5

p.Y586F

c.1757A>T

1 paper

NM_000032.5

p.Y586*

c.1758T>G

1 paper

NM_000032.5

p.Y586*

c.1758T>A

1 paper

NM_000032.5

p.G576R

c.1726G>C