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

2 papers

NM_000032.5

p.K299N

c.897G>T

Surrounding Variants

3 papers

NM_000032.5

p.K299N

c.897G>C

14 papers

NM_000032.5

p.K299Q

c.895A>C

8 papers

NM_000032.5

p.V301A

c.902T>C

1 paper

NM_000032.5

p.A298P

c.892G>C

1 paper

NM_000032.5

p.V301delFs

c.901_902delAC

1 paper

NM_000032.5

p.F302S

c.905T>C

1 paper

NM_000032.5

p.N294K

c.882C>G

1 paper

NM_000032.5

p.H304delFs

c.912delG

1 paper

NM_000032.5

p.R293R

c.879T>G

3 papers

NM_000032.5

p.P307T

c.919C>A

14 papers

NM_000032.5

p.G291S

c.871G>A

3 papers

NM_000032.5

p.I289T

c.866T>C