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.G443D

c.1328G>A

Surrounding Variants

5 papers

NM_000032.5

p.K439E

c.1315A>G

1 paper

NM_000032.5

p.R448*

c.1342C>T

2 papers

NM_000032.5

p.R448G

c.1342C>G

11 papers

NM_000032.5

p.R448Q

c.1343G>A

1 paper

NM_000032.5

p.S434_R436delFs

c.1302_1306del5

3 papers

NM_000032.5

p.H450L

c.1349A>T

9 papers

NM_000032.5

p.R436W

c.1306C>T

1 paper

NM_000032.5

p.V435V

c.1305G>A

26 papers

NM_000032.5

p.R452C

c.1354C>T

8 papers

NM_000032.5

p.R452G

c.1354C>G

15 papers

NM_000032.5

p.R452S

c.1354C>A

3 papers

NM_000032.5

p.R452L

c.1355G>T