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

3 papers

NM_000032.5

p.P307T

c.919C>A

Surrounding Variants

1 paper

NM_000032.5

p.H304delFs

c.912delG

1 paper

NM_000032.5

p.F302S

c.905T>C

1 paper

NM_000032.5

p.V301delFs

c.901_902delAC

8 papers

NM_000032.5

p.V301A

c.902T>C

2 papers

NM_000032.5

p.L313P

c.938T>C

1 paper

NM_000032.5

p.L314delFs

c.940delG

2 papers

NM_000032.5

p.K299N

c.897G>T

3 papers

NM_000032.5

p.K299N

c.897G>C

14 papers

NM_000032.5

p.K299Q

c.895A>C

1 paper

NM_000032.5

p.A298P

c.892G>C

3 papers

NM_000032.5

p.K316E

c.946A>G

1 paper

NM_000032.5

p.K316T

c.947A>C