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.V501L

c.1501G>T

Surrounding Variants

1 paper

NM_000032.5

p.V501L

c.1501G>C

6 papers

NM_000032.5

p.Y500C

c.1499A>G

1 paper

NM_000032.5

p.Q502*

c.1504C>T

1 paper

NM_000032.5

p.K488_V501del14

c.1462_1502del42

5 papers

NM_000032.5

p.A503V

c.1508C>T

1 paper

NM_000032.5

p.G498S

c.1492G>A

1 paper

NM_000032.5

p.K496E

c.1486A>G

1 paper

NM_000032.5

p.L494del1

c.1480_1481delGAG

2 papers

NM_000032.5

p.P507L

c.1520C>T

1 paper

NM_000032.5

p.Y506delFs

c.1518delG

8 papers

NM_000032.5

p.T508S

c.1522A>T

1 paper

NM_000032.5

p.L492_L493del1

c.1476_1478delAGG